V30V (p.Val30Val) variant of CHEK1 (O14757)
V30V (p.Val30Val) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V30V (p.Val30Val) variant details
- p.Val30Val
- rs1940675077
- gnomAD 11-125627631-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 18.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available