L14V (p.Leu14Val) variant of XRCC2 (DNA repair protein XRCC2)
L14V (p.Leu14Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs1029144797
- ClinGen CA169488184
- ClinVar RCV001207039
- ClinVar RCV002322014
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.18
- MetaLR 0.40
- MetaSVM -0.37
- CADD 26.50
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance (in SPGF50 and POF17)
- UniProt: Uncertain significance (in SPGF50 and POF17)
- Most common in the African/African-American population (allele frequency 4.8e-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)