K17E (p.Lys17Glu) variant of HBA1 (Hemoglobin subunit alpha)
K17E (p.Lys17Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- rs281865555
- ClinGen CA125567
- ClinVar RCV000016905
- ClinVar RCV000016906
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.61
- MetaLR 0.79
- MetaSVM 0.26
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Variant of uncertain significance (in Beijing)
- UniProt: Uncertain significance (in Beijing)
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome. (PMID 6505702)