A45S (p.Ala45Ser) variant of CHEK1 (O14757)
A45S (p.Ala45Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- TOPMed rs1565361807
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.20
- CADD 19.90
- PolyPhen-2 0.07
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available