V2L (p.Val2Leu) variant of HBD (Hemoglobin subunit delta)
V2L (p.Val2Leu) 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.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- gnomAD 11-5234430-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.61
- MetaSVM 0.17
- CADD 21.10
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available
- Literature evidence available