S37F (p.Ser37Phe) variant of TP53 (Cellular tumor antigen p53)
S37F (p.Ser37Phe) 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 Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Adrenocortical ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- rs1567557177
- ClinGen CA397847974
- ClinVar RCV000688189
- ClinVar RCV004026290
- Conflicting interpretations
- Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Adrenocortical ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.90
- MetaSVM 0.83
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; A)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score -2.01
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)