P68L (p.Pro68Leu) variant of ABCA4 (P78363)
P68L (p.Pro68Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- rs62654397
- ClinGen CA226972
- ClinVar RCV000085457
- ClinVar RCV000414796
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.92
- CADD 27.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (PMID 19265867)