A2018G (p.Ala2018Gly) variant of SPTB (Spectrin beta chain, erythrocytic)
A2018G (p.Ala2018Gly) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Elliptocytosis 3; Pyropoikilocytosis, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature.
A2018G (p.Ala2018Gly) variant details
- p.Ala2018Gly
- rs121918647
- ClinGen CA122738
- ClinVar RCV000013686
- ClinVar RCV000013687
- Pathogenic
- Elliptocytosis 3; Pyropoikilocytosis, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.58
- MetaLR 0.26
- MetaSVM -0.43
- PolyPhen-2 0.14
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Elliptocytosis 3; Pyropoikilocytosis, hereditary)
- EBI: Pathogenic (in EL3)
- UniProt: Pathogenic (in EL3)
- Cited in: Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association… (PMID 2346784)
- Cited in: Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure… (PMID 8226774)