V12C (p.Val12Cys) variant of CHEK1 (O14757)
V12C (p.Val12Cys) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V12C (p.Val12Cys) variant details
- p.Val12Cys
- gnomAD 11-125626800-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available