P38A (p.Pro38Ala) variant of XRCC2 (DNA repair protein XRCC2)
P38A (p.Pro38Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- rs2485896765
- ClinGen CA370199410
- ClinVar RCV002320504
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.86
- CADD 19.90
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)