P37T (p.Pro37Thr) variant of HBD (Hemoglobin subunit delta)
P37T (p.Pro37Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P37T (p.Pro37Thr) variant details
- p.Pro37Thr
- gnomAD 11-5234197-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.80
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available