A16P (p.Ala16Pro) variant of XRCC2 (DNA repair protein XRCC2)
A16P (p.Ala16Pro) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- rs4987090
- ClinGen CA4582415
- ClinVar RCV004521369
- ESP rs4987090
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.26
- MetaLR 0.32
- MetaSVM -0.52
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- 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)