E18K (p.Glu18Lys) variant of RP2 (Protein XRP2)
E18K (p.Glu18Lys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- ExAC rs782717555
- TOPMed rs782717555
- gnomAD rs782717555
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.12
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available