A17V (p.Ala17Val) variant of FH (P07954)
A17V (p.Ala17Val) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis and renal cel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs111548093
- ClinGen CA321044
- ClinVar RCV000566056
- ClinVar RCV001722092
- Likely benign
- Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis and renal cel
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.33
- CADD 7.13
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome; Hereditary leiomyomatos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)