S5T (p.Ser5Thr) variant of PRRT2 (Q7Z6L0)
S5T (p.Ser5Thr) 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 0.18 / 1. The record also includes population frequency data and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- rs745742339
- ClinGen CA317017
- ClinVar RCV000467192
- ExAC rs745742339
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.12
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available