A1357E (p.Ala1357Glu) variant of ABCA4 (P78363)
A1357E (p.Ala1357Glu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A1357E (p.Ala1357Glu) variant details
- p.Ala1357Glu
- rs552517556
- ClinGen CA341286986
- ClinVar RCV000761667
- ClinVar RCV004564474
- Pathogenic
- Retinitis pigmentosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.89
- MetaLR 0.90
- MetaSVM 0.99
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Retinitis pigmentosa; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)