N13T (p.Asn13Thr) variant of HBD (Hemoglobin subunit delta)
N13T (p.Asn13Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N13T (p.Asn13Thr) variant details
- p.Asn13Thr
- gnomAD 11-5234396-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.16
- MetaSVM -0.75
- CADD 0.00
- Population evidence available
- Structural context available
- Literature evidence available