A11D (p.Ala11Asp) variant of HBD (Hemoglobin subunit delta)
A11D (p.Ala11Asp) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in MUMC/Corleone. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- UniProt VAR 030500
- Uncertain significance
- in MUMC/Corleone
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.59
- MetaSVM -0.48
- SIFT 0.14
- EBI: Variant of uncertain significance (in MUMC/Corleone)
- UniProt: Uncertain significance (in MUMC/Corleone)
- Structural context available
- Cited in: Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc… (PMID 16370490)
- Cited in: Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. (PMID 17145605)