E15V (p.Glu15Val) variant of RAD51D (O75771)
E15V (p.Glu15Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
E15V (p.Glu15Val) variant details
- p.Glu15Val
- rs1567736383
- ClinGen CA399092449
- ClinVar RCV000818239
- Ensembl rs1567736383
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- CADD 29.90
- PolyPhen-2 0.43
- 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 1.8e-06)
- Structural context available