E17D (p.Glu17Asp) variant of CHEK1 (O14757)
E17D (p.Glu17Asp) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 11-125626819-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available