G16D (p.Gly16Asp) variant of HBA1 (Hemoglobin subunit alpha)
G16D (p.Gly16Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs34956202
- ClinGen CA125565
- ClinVar RCV000016902
- ClinVar RCV000016903
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM -0.47
- SIFT 0.26
- MutPred 0.83
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign (in Ottawa/Siam)
- UniProt: Likely benign (in Ottawa/Siam)
- Structural context available
- Cited in: [A NEW HEMOGLOBIN I VARIANT: HBI-INTERLAKEN]. (PMID 14204459)
- Cited in: A NEW HAEMOGLOBIN-JA OXFORD FOUND DURING A SURVEY OF AN ENGLISH POPULATION. (PMID 14212426)