R1925I (p.Arg1925Ile) variant of ABCA4 (P78363)
R1925I (p.Arg1925Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Stargardt disease; not provided. 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.
R1925I (p.Arg1925Ile) variant details
- p.Arg1925Ile
- rs1208195953
- ClinGen CA341280337
- cosmic curated COSV64671
- ClinVar RCV000994034
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.84
- MetaLR 0.76
- MetaSVM 0.63
- CADD 27.20
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Stargardt disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available