V135E (p.Val135Glu) variant of HBB (Hemoglobin subunit beta)
V135E (p.Val135Glu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V135E (p.Val135Glu) variant details
- p.Val135Glu
- rs33966761
- ClinGen CA125066
- ClinVar RCV000016521
- UniProt VAR 003072
- Pathogenic
- Hemoglobinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.76
- MetaSVM 0.28
- CADD 22.70
- ClinVar: Pathogenic (Hemoglobinopathy)
- EBI: Pathogenic (in North Shore-Caracas)
- UniProt: Pathogenic (in North Shore-Caracas)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: A second Australian family with hemoglobin North Shore (beta 134 Val----Glu). (PMID 3588028)
- Cited in: Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by glutamic acid. (PMID 891976)