K38K (p.Lys38Lys) variant of CHEK1 (O14757)
K38K (p.Lys38Lys) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
K38K (p.Lys38Lys) variant details
- p.Lys38Lys
- rs1372882814
- gnomAD 11-125625814-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.84
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available