V55A (p.Val55Ala) variant of HBD (Hemoglobin subunit delta)
V55A (p.Val55Ala) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- gnomAD 11-5234142-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.82
- MetaLR 0.80
- MetaSVM 0.23
- CADD 25.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available