R36del (p.Arg36del) variant of CHEK1 (O14757)
R36del (p.Arg36del) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R36del (p.Arg36del) variant details
- rs756532713
- gnomAD 11-125625860-AGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 2.55
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available