K26R (p.Lys26Arg) variant of RAD51D (O75771)
K26R (p.Lys26Arg) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- rs1060502961
- ClinGen CA16615619
- ClinVar RCV000466122
- ClinVar RCV001026822
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.0922
- REVEL 0.03
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Breast-ov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)