R41T (p.Arg41Thr) variant of HBD (Hemoglobin subunit delta)
R41T (p.Arg41Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R41T (p.Arg41Thr) variant details
- p.Arg41Thr
- gnomAD 11-5234184-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.78
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available