E328V (p.Glu328Val) variant of ABCA4 (P78363)
E328V (p.Glu328Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E328V (p.Glu328Val) variant details
- p.Glu328Val
- rs61751419
- ClinGen CA227477
- ClinVar RCV000085879
- ClinVar RCV004796011
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.89
- MetaLR 0.83
- MetaSVM 0.83
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- 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: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)