E22K (p.Glu22Lys) variant of CHEK1 (O14757)
E22K (p.Glu22Lys) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- gnomAD 11-125626832-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- CADD 22.40
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available