G16E (p.Gly16Glu) variant of CHEK1 (O14757)
G16E (p.Gly16Glu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- cosmic curated COSV10722
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.76
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available