G2S (p.Gly2Ser) variant of RP2 (Protein XRP2)
G2S (p.Gly2Ser) 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 0.73 / 1. The record also includes population frequency data and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- rs1556313408
- ClinGen CA413038139
- ClinVar RCV002819618
- gnomAD rs1556313408
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.72
- AlphaMissense 0.64
- MetaLR 0.87
- MetaSVM 0.79
- CADD 26.70
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available