E8K (p.Glu8Lys) variant of HBB (Hemoglobin subunit beta)
E8K (p.Glu8Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs34948328
- ClinGen CA125168
- cosmic curated COSV10524
- ClinVar RCV000016602
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Pathogenic (in G-Siriraj)
- UniProt: Pathogenic (in G-Siriraj)
- Structural context available
- Cited in: A NEW HAEMOGLOBIN IN A THAI FAMILY. A CASE OF HAEMOGLOBIN SIRIRAJ-BETA THALASSAEMIA. (PMID 14288126)
- Cited in: Fast haemoglobin variant found in Hawaiian-Chinese-Caucasian family in Hawaii and a Chinese subject in taiwan. (PMID 5032420)