A1357T (p.Ala1357Thr) variant of ABCA4 (P78363)
A1357T (p.Ala1357Thr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A1357T (p.Ala1357Thr) variant details
- p.Ala1357Thr
- rs754899711
- ClinGen CA957733
- ClinVar RCV000787903
- ClinVar RCV001235117
- Pathogenic
- Retinitis pigmentosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.85
- MetaLR 0.83
- MetaSVM 0.85
- CADD 24.00
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Pathogenic (Retinitis pigmentosa; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420… (PMID 23755871)
- Cited in: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With… (PMID 29847635)