G30S (p.Gly30Ser) variant of HBB (Hemoglobin subunit beta)
G30S (p.Gly30Ser) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN TIZI-OUZOU. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs33974277
- ClinGen CA125534
- cosmic curated COSV58941
- ClinVar RCV000016882
- other
- HEMOGLOBIN TIZI-OUZOU
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.69
- ESM-1b 0.86
- AlphaMissense 0.49
- MetaLR 0.57
- MetaSVM 0.32
- CADD 23.50
- ClinVar: other (HEMOGLOBIN TIZI-OUZOU)
- UniProt: Other (in Lufkin)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser]. (PMID 15481887)