P640L (p.Pro640Leu) variant of ABCA4 (P78363)
P640L (p.Pro640Leu) 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; Retinal dystrophy; Stargardt disease. 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.
P640L (p.Pro640Leu) variant details
- p.Pro640Leu
- rs760790294
- ClinGen CA16603707
- ClinVar RCV000439383
- ClinVar RCV001073702
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- AlphaMissense 0.83
- MetaLR 0.85
- MetaSVM 0.96
- CADD 28.00
- PolyPhen-2 0.86
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease. (PMID 24457364)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)