I52V (p.Ile52Val) variant of CHEK1 (O14757)
I52V (p.Ile52Val) 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, published literature, and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- gnomAD 11-125627695-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available