N58K (p.Asn58Lys) variant of ABCA4 (P78363)
N58K (p.Asn58Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- rs61748524
- ClinGen CA226920
- ClinVar RCV000085418
- UniProt VAR 012495
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.32
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)