K16N (p.Lys16Asn) variant of HADHB (P55084)
K16N (p.Lys16Asn) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- gnomAD 2-26254298-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 24.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available