P68R (p.Pro68Arg) variant of ABCA4 (P78363)
P68R (p.Pro68Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related disorder; Retinal dystrophy; not provided. 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.
P68R (p.Pro68Arg) variant details
- p.Pro68Arg
- rs62654397
- ClinGen CA226971
- ClinVar RCV000085456
- ClinVar RCV000779008
- Pathogenic/Likely pathogenic
- ABCA4-related disorder; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.92
- MetaLR 1.00
- MetaSVM 0.95
- CADD 26.40
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related disorder; Retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt… (PMID 9973280)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)