V21M (p.Val21Met) variant of HBD (Hemoglobin subunit delta)
V21M (p.Val21Met) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- cosmic curated COSV53083
- 1000Genomes rs369305779
- ESP rs369305779
- ExAC rs369305779
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.54
- MetaSVM -0.24
- CADD 7.56
- Most common in the 1KG:PJL population (allele frequency 0.026)
- Structural context available