E48K (p.Glu48Lys) variant of RP2 (Protein XRP2)
E48K (p.Glu48Lys) 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 0.47 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs1242455423
- ClinGen CA413038872
- ClinVar RCV001352468
- TOPMed rs1242455423
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available