H60Y (p.His60Tyr) variant of XRCC2 (DNA repair protein XRCC2)
H60Y (p.His60Tyr) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H60Y (p.His60Tyr) variant details
- p.His60Tyr
- rs1554410567
- ClinGen CA370199254
- ClinVar RCV000570344
- ClinVar RCV006463409
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.33
- MetaLR 0.16
- MetaSVM -0.91
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.00
- 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 6.3e-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)