S4R (p.Ser4Arg) variant of PRRT2 (Q7Z6L0)
S4R (p.Ser4Arg) 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 0.27 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- rs757148846
- ClinGen CA7994460
- ClinVar RCV001897266
- ExAC rs757148846
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.13
- CADD 21.70
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available