P42S (p.Pro42Ser) variant of PRRT2 (Q7Z6L0)
P42S (p.Pro42Ser) 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 0.21 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs1019859682
- ClinGen CA280409049
- ClinVar RCV003853174
- TOPMed rs1019859682
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.03
- CADD 0.85
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available