V19M (p.Val19Met) variant of HBD (Hemoglobin subunit delta)
V19M (p.Val19Met) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- gnomAD 11-5234379-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.84
- MetaSVM 0.31
- CADD 14.40
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available