S28P (p.Ser28Pro) variant of PRRT2 (Q7Z6L0)
S28P (p.Ser28Pro) 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 0.32 / 1. The record also includes structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- rs1900060891
- ClinGen CA395477201
- ClinVar RCV001043752
- Ensembl rs1900060891
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.12
- EVE 0.10
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available