N96I (p.Asn96Ile) variant of ABCA4 (P78363)
N96I (p.Asn96Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
N96I (p.Asn96Ile) variant details
- p.Asn96Ile
- rs2101162260
- ClinGen CA341285362
- ClinVar RCV002007319
- Ensembl rs2101162260
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available