H3L (p.His3Leu) variant of HBD (Hemoglobin subunit delta)
H3L (p.His3Leu) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Catania. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
H3L (p.His3Leu) variant details
- p.His3Leu
- rs35433207
- UniProt VAR 030499
- ExAC rs35433207
- TOPMed rs35433207
- Benign
- in Catania
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.65
- MetaSVM -0.09
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Benign (in Catania)
- UniProt: Benign (in Catania)
- Structural context available
- Cited in: Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. (PMID 17145605)