G17D (p.Gly17Asp) variant of HBB (Hemoglobin subunit beta)
G17D (p.Gly17Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- rs33962676
- ClinGen CA124935
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.57
- ESM-1b 0.74
- AlphaMissense 0.28
- MetaLR 0.58
- MetaSVM -0.24
- CADD 6.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Benign (in J-Baltimore/J-Trinidad/J-Ireland/J-Georgia/N-New Haven)
- UniProt: Benign (in J-Baltimore/J-Trinidad/J-Ireland/J-Georgia/N-New Haven)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: The abnormal polypeptide chains in a number of haemoglobin variants. (PMID 13703277)
- Cited in: Difference in gross structure of two electrophoretically identical 'minor' haemoglobin components. (PMID 14449876)