P38L (p.Pro38Leu) variant of XRCC2 (DNA repair protein XRCC2)
P38L (p.Pro38Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs2485896764
- ClinGen CA370199406
- ClinVar RCV003165248
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)