L14H (p.Leu14His) variant of XRCC2 (DNA repair protein XRCC2)
L14H (p.Leu14His) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L14H (p.Leu14His) variant details
- p.Leu14His
- rs757140620
- ClinGen CA370199556
- ClinVar RCV002000782
- ClinVar RCV002331571
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.53
- MetaLR 0.43
- MetaSVM -0.15
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in SPGF50 and POF17)
- UniProt: Pathogenic (in SPGF50 and POF17)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)