D1918V (p.Asp1918Val) variant of ABCA4 (P78363)
D1918V (p.Asp1918Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D1918V (p.Asp1918Val) variant details
- p.Asp1918Val
- rs1659470705
- ClinGen CA341280422
- ClinVar RCV001091510
- ClinVar RCV006272308
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.84
- AlphaMissense 0.82
- MetaLR 0.89
- MetaSVM 0.98
- CADD 25.30
- PolyPhen-2 0.85
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available