L31V (p.Leu31Val) variant of XRCC2 (DNA repair protein XRCC2)
L31V (p.Leu31Val) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- rs748198457
- ClinGen CA4582405
- ClinVar RCV000484446
- ClinVar RCV001018997
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- AlphaMissense 0.20
- MetaLR 0.37
- MetaSVM -0.27
- CADD 23.80
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)