G55R (p.Gly55Arg) variant of RP2 (Protein XRP2)
G55R (p.Gly55Arg) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- rs1924896657
- ClinGen CA413038915
- ClinVar RCV001073339
- ClinVar RCV001862802
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.40
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available