H3N (p.His3Asn) variant of HBB (Hemoglobin subunit beta)
H3N (p.His3Asn) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H3N (p.His3Asn) variant details
- p.His3Asn
- gnomAD 11-5227015-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.59
- MetaSVM -0.08
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available