P1380L (p.Pro1380Leu) variant of ABCA4 (P78363)
P1380L (p.Pro1380Leu) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P1380L (p.Pro1380Leu) variant details
- p.Pro1380Leu
- rs61750130
- ClinGen CA129033
- ClinVar RCV000008362
- ClinVar RCV000023139
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available
- Cited in: The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to… (PMID 10396622)
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)