F56I (p.Phe56Ile) variant of ABCA4 (P78363)
F56I (p.Phe56Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
F56I (p.Phe56Ile) variant details
- p.Phe56Ile
- rs1662606557
- ClinGen CA341285634
- ClinVar RCV001073241
- Ensembl rs1662606557
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available