G30G (p.Gly30Gly) variant of HBB (Hemoglobin subunit beta)
G30G (p.Gly30Gly) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs35578002
- gnomAD 11-5226932-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.50
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available