N10H (p.Asn10His) variant of HBA1 (Hemoglobin subunit alpha)
N10H (p.Asn10His) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N10H (p.Asn10His) variant details
- p.Asn10His
- gnomAD 16-172940-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.37
- MetaLR 0.52
- MetaSVM -0.36
- CADD 8.00
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 5e-06)
- Structural context available
- Literature evidence available