D22N (p.Asp22Asn) variant of HBB (Hemoglobin subunit beta)
D22N (p.Asp22Asn) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- rs33950093
- ClinGen CA124801
- ClinVar RCV000016303
- ClinVar RCV004998082
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in Cocody)
- UniProt: Benign (in Cocody)
- Structural context available
- Cited in: Hb Cocody [beta 21(B3)Asp----Asn] and Hb Yusa [beta 21(B3)ASP----TYR] found in Japan. (PMID 2384310)
- Cited in: Hemoglobin Cocody [beta 21 (B3)Asp----Asn] hematologic aspects of heterozygosity and of Hb Cocody/beta +-thalassemia. (PMID 4030382)