K54R (p.Lys54Arg) variant of CHEK1 (O14757)
K54R (p.Lys54Arg) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- rs957835845
- gnomAD 11-125627697-TAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 18.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available