A17V (p.Ala17Val) variant of SUFU (Suppressor of fused homolog)
A17V (p.Ala17Val) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs12780580
- ClinGen CA5667584
- cosmic curated COSV64016
- ClinVar RCV000475558
- Conflicting interpretations
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.08
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)