K38N (p.Lys38Asn) variant of CHEK1 (O14757)
K38N (p.Lys38Asn) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- rs1372882814
- gnomAD 11-125625814-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available