A36S (p.Ala36Ser) variant of CHEK1 (O14757)
A36S (p.Ala36Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- ExAC rs753180922
- gnomAD rs753180922
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.69
- CADD 20.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available