V40V (p.Val40Val) variant of CHEK1 (O14757)
V40V (p.Val40Val) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- rs754190375
- gnomAD 11-125627661-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available