G65R (p.Gly65Arg) variant of ABCA4 (P78363)
G65R (p.Gly65Arg) 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 0.91 / 1. The record also includes structural context.
G65R (p.Gly65Arg) variant details
- p.Gly65Arg
- rs1662604844
- ClinGen CA341285577
- ClinVar RCV001207246
- Ensembl rs1662604844
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.72
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in STGD1 and CORD3)
- UniProt: Uncertain significance (in STGD1 and CORD3)
- Structural context available