Q24R (p.Gln24Arg) variant of CHEK1 (O14757)
Q24R (p.Gln24Arg) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD 11-125625880-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.10
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available