P1511H (p.Pro1511His) variant of ABCA4 (P78363)
P1511H (p.Pro1511His) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P1511H (p.Pro1511His) variant details
- p.Pro1511His
- rs886046564
- ClinGen CA16617202
- ClinVar RCV000483262
- ClinVar RCV005899620
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.04
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- 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)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)