H13D (p.His13Asp) variant of CHEK2 (O96017)
H13D (p.His13Asp) 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 0.39 / 1. The record also includes population frequency data and structural context.
H13D (p.His13Asp) variant details
- p.His13Asp
- Ensembl rs1601854066
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.27
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.06
- CADD 21.70
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available