E14K (p.Glu14Lys) variant of RAD51D (O75771)
E14K (p.Glu14Lys) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs562456790
- ClinGen CA290007282
- ClinVar RCV000579883
- ClinVar RCV000649699
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.04
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)