E8K (p.Glu8Lys) variant of HBD (Hemoglobin subunit delta)
E8K (p.Glu8Lys) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.96
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available