N10D (p.Asn10Asp) variant of HADHB (P55084)
N10D (p.Asn10Asp) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N10D (p.Asn10Asp) variant details
- p.Asn10Asp
- gnomAD 2-26254282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available