R28C (p.Arg28Cys) variant of SPTA1 (P02549)
R28C (p.Arg28Cys) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SPTA1-related disorder; not provided; Elliptocytosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs121918642
- ClinGen CA122758
- NCI-TCGA Cosmic COSV6375
- cosmic curated COSV63752
- Pathogenic/Likely pathogenic
- SPTA1-related disorder; not provided; Elliptocytosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SPTA1-related disorder; not provided; Elliptocytosis 2)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Cited in: Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal… (PMID 1679439)
- Cited in: Spectrin tetramer-dimer equilibrium in hereditary elliptocytosis. (PMID 7074218)