D10E (p.Asp10Glu) variant of CHEK1 (O14757)
D10E (p.Asp10Glu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- TOPMed rs1940632613
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available