G2C (p.Gly2Cys) variant of RP2 (Protein XRP2)
G2C (p.Gly2Cys) in RP2 (Protein XRP2) 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 0.79 / 1. The record also includes structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- rs1556313408
- ClinGen CA413038141
- ClinVar RCV003044991
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.64
- MetaLR 0.87
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available