S28C (p.Ser28Cys) variant of PRRT2 (Q7Z6L0)
S28C (p.Ser28Cys) 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 0.39 / 1. The record also includes structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- rs1900061006
- ClinGen CA395477207
- ClinVar RCV001348313
- Ensembl rs1900061006
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.12
- MetaLR 0.28
- MetaSVM -0.68
- PolyPhen-2 0.95
- SIFT 0.02
- EVE 0.27
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available