Y40C (p.Tyr40Cys) variant of RP2 (Protein XRP2)
Y40C (p.Tyr40Cys) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- TOPMed rs1924894872
- gnomAD rs1924894872
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.79
- CADD 24.60
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available