D22G (p.Asp22Gly) variant of HBB (Hemoglobin subunit beta)
D22G (p.Asp22Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN CONNECTICUT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- rs33977536
- ClinGen CA124805
- ClinVar RCV000016305
- UniProt VAR 002890
- other
- HEMOGLOBIN CONNECTICUT
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.11
- ClinVar: other (HEMOGLOBIN CONNECTICUT)
- EBI: Benign (in Connecticut)
- UniProt: Benign (in Connecticut)
- Structural context available
- Cited in: Hemoglobin Fannin-Lubbock [alpha2 beta 2 119 (GH2) Gly replaced by Asp]. A new hemoglobin variant at the alpha1 beta 1… (PMID 11828)