P143L (p.Pro143Leu) variant of ABCA4 (P78363)
P143L (p.Pro143Leu) 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; Age related macular degeneration 2; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P143L (p.Pro143Leu) variant details
- p.Pro143Leu
- rs62646860
- ClinGen CA227179
- ClinVar RCV000085626
- ClinVar RCV001195926
- Pathogenic/Likely pathogenic
- not provided; Age related macular degeneration 2; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.80
- MetaLR 0.83
- MetaSVM 0.59
- CADD 25.10
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Age related macular degeneration 2; Stargardt dise)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)