E38K (p.Glu38Lys) variant of RAD51D (O75771)
E38K (p.Glu38Lys) 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; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs2142477536
- ClinGen CA399091901
- ClinVar RCV003472538
- Ensembl rs2142477536
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.13
- CADD 24.70
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available