H23R (p.His23Arg) variant of RAD51D (O75771)
H23R (p.His23Arg) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
H23R (p.His23Arg) variant details
- p.His23Arg
- rs990062370
- ClinGen CA16620393
- ClinVar RCV000485429
- ClinVar RCV000547804
- Conflicting interpretations
- not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.0507
- REVEL 0.02
- CADD 2.60
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Conflicting classifications of pathogenicity (not provided; Breast-ovarian cancer, familial, susceptibility to)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)