V2G (p.Val2Gly) variant of HBB (Hemoglobin subunit beta)
V2G (p.Val2Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN WATFORD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V2G (p.Val2Gly) variant details
- p.Val2Gly
- rs33949930
- ClinGen CA125494
- ClinVar RCV000016854
- TOPMed rs33949930
- other
- HEMOGLOBIN WATFORD
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.64
- MetaSVM 0.18
- CADD 22.90
- ClinVar: other (HEMOGLOBIN WATFORD)
- EBI: Likely benign (in Raleigh)
- UniProt: Likely benign (in Raleigh)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Hb Watford [beta1(NA1)Val-->Gly]: a new, clinically silent hemoglobin variant in linkage with a new neutral mutation. (PMID 11186267)