H13Y (p.His13Tyr) variant of CHEK2 (O96017)
H13Y (p.His13Tyr) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H13Y (p.His13Tyr) variant details
- p.His13Tyr
- cosmic curated COSV60428
- Ensembl rs1601854066
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.06
- CADD 20.50
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available