D22H (p.Asp22His) variant of HBB (Hemoglobin subunit beta)
D22H (p.Asp22His) 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 KARLSKOGA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D22H (p.Asp22His) variant details
- p.Asp22His
- rs33950093
- ClinGen CA125385
- ClinVar RCV000016784
- UniProt VAR 002892
- other
- HEMOGLOBIN KARLSKOGA
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.72
- MetaSVM 0.30
- CADD 21.90
- ClinVar: other (HEMOGLOBIN KARLSKOGA)
- EBI: Benign (in Karlskoga)
- UniProt: Benign (in Karlskoga)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Hb Trollhättan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis. (PMID 7914875)
- Cited in: Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden. (PMID 8330972)