W38R (p.Trp38Arg) variant of HBD (Hemoglobin subunit delta)
W38R (p.Trp38Arg) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
W38R (p.Trp38Arg) variant details
- p.Trp38Arg
- gnomAD 11-5234194-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.14
- CADD 23.60
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available