N10S (p.Asn10Ser) variant of HADHB (P55084)
N10S (p.Asn10Ser) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N10S (p.Asn10Ser) variant details
- p.Asn10Ser
- gnomAD 2-26254278-TAA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available