R29H (p.Arg29His) variant of CHEK1 (O14757)
R29H (p.Arg29His) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs1253603668
- gnomAD 11-125625864-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available