V39M (p.Val39Met) variant of XRCC2 (DNA repair protein XRCC2)
V39M (p.Val39Met) in XRCC2 (DNA repair protein XRCC2) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs730882040
- ClinGen CA300465
- ClinVar RCV000161103
- ClinVar RCV000791369
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- MetaLR 0.20
- MetaSVM -0.66
- CADD 23.00
- PolyPhen-2 0.59
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- 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)