H6Y (p.His6Tyr) variant of XRCC2 (DNA repair protein XRCC2)
H6Y (p.His6Tyr) 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 0.22 / 1. The record also includes population frequency data and structural context.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- TOPMed rs1043636944
- gnomAD rs1043636944
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.92
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 1.00
- 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 1.5e-05)
- Structural context available