H40P (p.His40Pro) variant of XRCC2 (DNA repair protein XRCC2)
H40P (p.His40Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H40P (p.His40Pro) variant details
- p.His40Pro
- rs777753452
- ClinGen CA370199398
- ClinVar RCV001215750
- ClinVar RCV003163655
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.30
- MetaLR 0.12
- MetaSVM -1.05
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-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)