I52S (p.Ile52Ser) variant of CHEK1 (O14757)
I52S (p.Ile52Ser) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I52S (p.Ile52Ser) variant details
- p.Ile52Ser
- gnomAD 11-125627696-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- CADD 21.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available