D41V (p.Asp41Val) variant of CHEK1 (O14757)
D41V (p.Asp41Val) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- rs925840558
- gnomAD 11-125625885-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0969
- CADD 2.29
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available