G30C (p.Gly30Cys) variant of HBB (Hemoglobin subunit beta)
G30C (p.Gly30Cys) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- TOPMed rs33974277
- gnomAD rs33974277
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.75
- MetaSVM 0.68
- CADD 24.40
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available