N10D (p.Asn10Asp) variant of HBA1 (Hemoglobin subunit alpha)
N10D (p.Asn10Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N10D (p.Asn10Asp) variant details
- p.Asn10Asp
- gnomAD 16-172940-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.49
- MetaLR 0.66
- MetaSVM -0.02
- CADD 10.30
- PolyPhen-2 0.32
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available