D1918G (p.Asp1918Gly) variant of ABCA4 (P78363)
D1918G (p.Asp1918Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
D1918G (p.Asp1918Gly) variant details
- p.Asp1918Gly
- rs1659470705
- ClinGen CA341280424
- ClinVar RCV002000466
- Ensembl rs1659470705
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.82
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.43
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available