K38I (p.Lys38Ile) variant of CHEK1 (O14757)
K38I (p.Lys38Ile) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K38I (p.Lys38Ile) variant details
- p.Lys38Ile
- rs116191495
- gnomAD 11-125625780-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 18.50
- Most common in the 1KG:YRI population (allele frequency 0.047)
- Structural context available
- Literature evidence available