P1486L (p.Pro1486Leu) variant of ABCA4 (P78363)
P1486L (p.Pro1486Leu) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P1486L (p.Pro1486Leu) variant details
- p.Pro1486Leu
- rs61750145
- ClinGen CA227192
- ClinVar RCV000085636
- ClinVar RCV000408536
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.80
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)