F1440S (p.Phe1440Ser) variant of ABCA4 (P78363)
F1440S (p.Phe1440Ser) 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; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
F1440S (p.Phe1440Ser) variant details
- p.Phe1440Ser
- rs61750141
- ClinGen CA227184
- ClinVar RCV000085630
- ClinVar RCV000504867
- Pathogenic/Likely pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.91
- MetaLR 0.83
- MetaSVM 0.83
- CADD 29.20
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- 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)