R21M (p.Arg21Met) variant of RAD51D (O75771)
R21M (p.Arg21Met) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R21M (p.Arg21Met) variant details
- p.Arg21Met
- rs2091797738
- ClinGen CA399092351
- ClinVar RCV001217073
- Ensembl rs2091797738
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available