M33K (p.Met33Lys) variant of HBA1 (Hemoglobin subunit alpha)
M33K (p.Met33Lys) 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 specified; alpha Thalassemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
M33K (p.Met33Lys) variant details
- p.Met33Lys
- rs281864566
- ClinGen CA276416654
- ClinVar RCV001811873
- ClinVar RCV003235599
- Conflicting interpretations
- not specified; alpha Thalassemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.09
- MetaLR 0.80
- MetaSVM 0.41
- SIFT 0.14
- MutPred 0.79
- ClinVar: Conflicting classifications of pathogenicity (not specified; alpha Thalassemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available