Y345C (p.Tyr345Cys) variant of ABCA4 (P78363)
Y345C (p.Tyr345Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
Y345C (p.Tyr345Cys) variant details
- p.Tyr345Cys
- rs1417184535
- ClinGen CA341284037
- ClinVar RCV001074077
- ClinVar RCV002557904
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.38
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.45
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available