D2102E (p.Asp2102Glu) variant of ABCA4 (P78363)
D2102E (p.Asp2102Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D2102E (p.Asp2102Glu) variant details
- p.Asp2102Glu
- rs568627877
- ClinGen CA956910
- ClinVar RCV001240517
- ClinVar RCV004562083
- Pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.08
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Stargardt disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available