E7A (p.Glu7Ala) variant of HBB (Hemoglobin subunit beta)
E7A (p.Glu7Ala) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E7A (p.Glu7Ala) variant details
- p.Glu7Ala
- rs334
- ClinGen CA124861
- ClinVar RCV000016352
- ClinVar RCV003234907
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.60
- CADD 5.17
- ClinVar: Likely benign (not specified)
- EBI: Pathogenic (in G-Makassar)
- UniProt: Pathogenic (in G-Makassar)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. (PMID 5658717)