A60E (p.Ala60Glu) variant of ABCA4 (P78363)
A60E (p.Ala60Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A60E (p.Ala60Glu) variant details
- p.Ala60Glu
- rs55732384
- ClinGen CA341285606
- ClinVar RCV003691242
- UniProt VAR 012496
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.76
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)