A54G (p.Ala54Gly) variant of HBD (Hemoglobin subunit delta)
A54G (p.Ala54Gly) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- gnomAD 11-5233057-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 0.24
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available