F2188S (p.Phe2188Ser) variant of ABCA4 (P78363)
F2188S (p.Phe2188Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Age related macular degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F2188S (p.Phe2188Ser) variant details
- p.Phe2188Ser
- rs61750658
- ClinGen CA227415
- ClinVar RCV000085829
- ClinVar RCV001002806
- Pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.86
- MetaLR 0.60
- MetaSVM 0.38
- CADD 25.60
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420… (PMID 23755871)
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)