K5N (p.Lys5Asn) variant of WRN (Q14191)
K5N (p.Lys5Asn) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- rs878854133
- gnomAD 8-31058454-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available