G16R (p.Gly16Arg) variant of CHEK1 (O14757)
G16R (p.Gly16Arg) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs980250476
- gnomAD 11-125625794-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 9.86
- Most common in the African/African-American population (allele frequency 0.00051)
- Structural context available
- Literature evidence available