K47E (p.Lys47Glu) variant of PRPH2 (Peripherin-2)
K47E (p.Lys47Glu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- rs1562434309
- ClinGen CA364138692
- ClinVar RCV001295424
- Ensembl rs1562434309
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.65
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.09
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available