N51K (p.Asn51Lys) variant of CHEK1 (O14757)
N51K (p.Asn51Lys) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N51K (p.Asn51Lys) variant details
- p.Asn51Lys
- rs1565361845
- gnomAD 11-125627693-ATAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 18.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available