T54S (p.Thr54Ser) variant of PRRT2 (Q7Z6L0)
T54S (p.Thr54Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- rs2543331554
- ClinGen CA395477526
- ClinVar RCV002302927
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0979
- REVEL 0.04
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.55
- 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