V29M (p.Val29Met) variant of RAD51D (O75771)
V29M (p.Val29Met) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- rs1555570422
- ClinGen CA399092040
- ClinVar RCV000584301
- ClinVar RCV001217700
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.09
- CADD 25.20
- PolyPhen-2 0.55
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)