R28L (p.Arg28Leu) variant of SPTA1 (P02549)
R28L (p.Arg28Leu) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- rs121918641
- ClinGen CA122756
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)