Q13H (p.Gln13His) variant of CHEK1 (O14757)
Q13H (p.Gln13His) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- gnomAD 11-125626807-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.21
- SIFT 0.14
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available