G2A (p.Gly2Ala) variant of RAD51D (O75771)
G2A (p.Gly2Ala) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs763716638
- ClinGen CA8499710
- ClinVar RCV000574423
- ClinVar RCV000588399
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.21
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Breast-ov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- 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)