P38S (p.Pro38Ser) variant of XRCC2 (DNA repair protein XRCC2)
P38S (p.Pro38Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- rs2485896765
- ClinGen CA370199409
- ClinVar RCV002320532
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)