P58R (p.Pro58Arg) variant of PRRT2 (Q7Z6L0)
P58R (p.Pro58Arg) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P58R (p.Pro58Arg) variant details
- p.Pro58Arg
- rs1567378768
- ClinGen CA395477551
- ClinVar RCV000678832
- ClinVar RCV002232812
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.20
- CADD 16.40
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available