E31K (p.Glu31Lys) variant of HBA1 (Hemoglobin subunit alpha)
E31K (p.Glu31Lys) 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 0.73 / 1. The record also includes published literature and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs33993166
- ClinGen CA125849
- ClinVar RCV000017132
- ClinVar RCV001283984
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.72
- MetaLR 0.78
- MetaSVM 0.32
- SIFT 0.00
- MutPred 0.76
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in O-Padova)
- UniProt: Uncertain significance (in O-Padova)
- Structural context available
- Cited in: Hb O Padova in a Spanish Family. (PMID 2117321)
- Cited in: Hemoglobin O-Padova or alpha(2)30(B11)Glu----Lys beta 2 observed in members of a Turkish family. (PMID 2869010)