V3S (p.Val3Ser) variant of CHEK1 (O14757)
V3S (p.Val3Ser) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V3S (p.Val3Ser) variant details
- p.Val3Ser
- rs1940631774
- gnomAD 11-125626773-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available