T5N (p.Thr5Asn) variant of HBD (Hemoglobin subunit delta)
T5N (p.Thr5Asn) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- gnomAD 11-5234420-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.67
- MetaSVM 0.30
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available