G30D (p.Gly30Asp) variant of HBB (Hemoglobin subunit beta)
G30D (p.Gly30Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs35685286
- ClinGen CA125003
- NCI-TCGA Cosmic COSV5894
- cosmic curated COSV58941
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in Lufkin)
- UniProt: Likely pathogenic (in Lufkin)
- Structural context available
- Cited in: Hemoglobin Lufkin: beta 29 (B11) Gly replaced by Asp. An unstable hemoglobin variant involving an internal amino acid… (PMID 24022)
- Cited in: Hemoglobin Lufkin [beta 29(B11)Gly----Asp] found in a Japanese. (PMID 3384703)