W16L (p.Trp16Leu) variant of HBD (Hemoglobin subunit delta)
W16L (p.Trp16Leu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
W16L (p.Trp16Leu) variant details
- p.Trp16Leu
- ExAC rs757622703
- gnomAD rs757622703
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.91
- MetaSVM 0.94
- CADD 21.60
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available