G65V (p.Gly65Val) variant of ABCA4 (P78363)
G65V (p.Gly65Val) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in STGD1 and CORD3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G65V (p.Gly65Val) variant details
- p.Gly65Val
- 1000Genomes rs62654395
- ExAC rs62654395
- TOPMed rs62654395
- gnomAD rs62654395
- Pathogenic
- in STGD1 and CORD3
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.91
- CADD 23.90
- SIFT 0.00
- EBI: Pathogenic (in STGD1 and CORD3)
- UniProt: Pathogenic (in STGD1 and CORD3)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available