E37V (p.Glu37Val) variant of RAD51D (O75771)
E37V (p.Glu37Val) 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 0.47 / 1. The record also includes population frequency data and structural context.
E37V (p.Glu37Val) variant details
- p.Glu37Val
- rs2509185546
- ClinGen CA399091913
- ClinVar RCV003081493
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.30
- CADD 34.00
- PolyPhen-2 0.98
- 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