P1776L (p.Pro1776Leu) variant of ABCA4 (P78363)
P1776L (p.Pro1776Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P1776L (p.Pro1776Leu) variant details
- p.Pro1776Leu
- rs281865404
- ClinGen CA227300
- ClinVar RCV000085722
- Ensembl rs281865404
- Pathogenic/Likely pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.86
- MetaLR 0.69
- MetaSVM 0.44
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)