D48Y (p.Asp48Tyr) variant of HBD (Hemoglobin subunit delta)
D48Y (p.Asp48Tyr) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Parkville. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- NCI-TCGA Cosmic COSV5308
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- Variant assessed as somatic; moderate impact.
- in Parkville
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- ESM-1b 1.00
- AlphaMissense 0.66
- UniProt: Variant assessed as somatic; moderate impact. (in Parkville)
- Structural context available