R20G (p.Arg20Gly) variant of ABCA4 (P78363)
R20G (p.Arg20Gly) 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 0.87 / 1. The record also includes structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- rs1662934886
- ClinGen CA341288542
- ClinVar RCV001903005
- TOPMed rs1662934886
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.67
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available