V31I (p.Val31Ile) variant of TP53 (Cellular tumor antigen p53)
V31I (p.Val31Ile) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- rs201753350
- ClinGen CA357868
- cosmic curated COSV52753
- ClinVar RCV000115742
- Conflicting interpretations
- Breast and/or ovarian cancer; Hereditary cancer-predisposing syndrome; not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 1.46
- CADD 8.11
- ClinVar: Conflicting classifications of pathogenicity (Breast and/or ovarian cancer; Hereditary cancer-predisposing syn)
- EBI: Benign (in sporadic cancers)
- UniProt: Benign (in sporadic cancers)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- p53 variant effect measured by cell growth: score 0.465
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)