K34E (p.Lys34Glu) variant of RP2 (Protein XRP2)
K34E (p.Lys34Glu) 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.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- rs782473693
- ClinGen CA10394172
- ClinVar RCV001347539
- ClinVar RCV004758791
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.50
- CADD 23.40
- PolyPhen-2 0.11
- SIFT 0.15
- 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