E328K (p.Glu328Lys) variant of ABCA4 (P78363)
E328K (p.Glu328Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cone-rod dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E328K (p.Glu328Lys) variant details
- p.Glu328Lys
- rs61751418
- ClinGen CA958665
- ClinVar RCV001938813
- ClinVar RCV005419274
- Likely pathogenic
- Cone-rod dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.75
- MetaLR 0.84
- MetaSVM 0.71
- CADD 22.30
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Likely pathogenic (Cone-rod dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Cone rod dystrophies. (PMID 17270046)