V46R (p.Val46Arg) variant of CHEK1 (O14757)
V46R (p.Val46Arg) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V46R (p.Val46Arg) variant details
- p.Val46Arg
- rs1565361813
- gnomAD 11-125627674-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 19.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available