D36V (p.Asp36Val) variant of XRCC2 (DNA repair protein XRCC2)
D36V (p.Asp36Val) in XRCC2 (DNA repair protein XRCC2) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- rs2098032724
- ClinGen CA370199420
- ClinVar RCV002424222
- ClinVar RCV003101055
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.10
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.20
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)