V19G (p.Val19Gly) variant of HBB (Hemoglobin subunit beta)
V19G (p.Val19Gly) 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 provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V19G (p.Val19Gly) variant details
- p.Val19Gly
- rs35382661
- ClinGen CA217115344
- ClinVar RCV000589269
- ClinVar RCV001251065
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.50
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance (in Baden)
- UniProt: Uncertain significance (in Baden)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)