G47W (p.Gly47Trp) variant of HBD (Hemoglobin subunit delta)
G47W (p.Gly47Trp) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G47W (p.Gly47Trp) variant details
- p.Gly47Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- UniProt: Variant assessed as somatic; high impact.
- Structural context available