P37H (p.Pro37His) variant of HBD (Hemoglobin subunit delta)
P37H (p.Pro37His) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) METAPONTO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P37H (p.Pro37His) variant details
- p.Pro37His
- rs34383555
- ClinGen CA124699
- cosmic curated COSV53082
- ClinVar RCV000016233
- other
- HEMOGLOBIN A(2) METAPONTO
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: other (HEMOGLOBIN A(2) METAPONTO)
- EBI: Benign (in Metaponto)
- UniProt: Benign (in Metaponto)
- Structural context available
- Cited in: Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. (PMID 11939506)
- Cited in: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PMID 12402333)