G30V (p.Gly30Val) variant of HBD (Hemoglobin subunit delta)
G30V (p.Gly30Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- TOPMed rs1289490807
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.87
- MetaSVM 0.82
- CADD 23.90
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available