G72E (p.Gly72Glu) variant of ABCA4 (P78363)
G72E (p.Gly72Glu) 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 0.93 / 1. The record also includes structural context.
G72E (p.Gly72Glu) variant details
- p.Gly72Glu
- rs2101162548
- ClinGen CA341285534
- NCI-TCGA Cosmic COSV6467
- ClinVar RCV003543989
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.74
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available