A22V (p.Ala22Val) variant of RAD51C (O43502)
A22V (p.Ala22Val) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs2143676047
- ClinGen CA400336839
- ClinVar RCV001779185
- ClinVar RCV002377665
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.09
- EVE 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)