A60G (p.Ala60Gly) variant of ABCA4 (P78363)
A60G (p.Ala60Gly) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in STGD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A60G (p.Ala60Gly) variant details
- p.Ala60Gly
- ExAC rs55732384
- TOPMed rs55732384
- gnomAD rs55732384
- Pathogenic
- in STGD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.82
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.08
- CADD 29.00
- PolyPhen-2 1.00
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available