P1660L (p.Pro1660Leu) variant of ABCA4 (P78363)
P1660L (p.Pro1660Leu) 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; not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P1660L (p.Pro1660Leu) variant details
- p.Pro1660Leu
- rs886044746
- ClinGen CA10602425
- cosmic curated COSV10467
- ClinVar RCV000408473
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- AlphaMissense 0.83
- MetaLR 0.85
- MetaSVM 0.90
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available