A34V (p.Ala34Val) variant of RAD51D (O75771)
A34V (p.Ala34Val) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs876658968
- ClinGen CA10580473
- ClinVar RCV000214363
- ClinVar RCV000588755
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.10
- CADD 33.00
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)