R107G (p.Arg107Gly) variant of ABCA4 (P78363)
R107G (p.Arg107Gly) 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 0.37 / 1. The record also includes population frequency data and structural context.
R107G (p.Arg107Gly) variant details
- p.Arg107Gly
- rs765429911
- ClinGen CA26895916
- ClinVar RCV002601519
- ExAC rs765429911
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.37
- MetaLR 0.66
- MetaSVM -0.06
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available