K90R (p.Lys90Arg) variant of PRPH2 (Peripherin-2)
K90R (p.Lys90Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data and structural context.
K90R (p.Lys90Arg) variant details
- p.Lys90Arg
- ExAC rs772157862
- TOPMed rs772157862
- gnomAD rs772157862
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.33
- ClinVar: Uncertain significance (PRPH2-related disorder)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available