V3M (p.Val3Met) variant of RAD51D (O75771)
V3M (p.Val3Met) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs758124349
- ClinGen CA8499709
- ClinVar RCV000218481
- ClinVar RCV000649710
- Uncertain significance
- not provided; not specified; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; not specified; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- 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)