A54V (p.Ala54Val) variant of HBD (Hemoglobin subunit delta)
A54V (p.Ala54Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD 11-5233057-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 0.41
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available