D10H (p.Asp10His) variant of CHEK1 (O14757)
D10H (p.Asp10His) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D10H (p.Asp10His) variant details
- p.Asp10His
- gnomAD rs1940632387
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.50
- CADD 14.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available