V20I (p.Val20Ile) variant of PRRT2 (Q7Z6L0)
V20I (p.Val20Ile) 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 0.31 / 1. The record also includes structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs1900059334
- ClinGen CA395477107
- ClinVar RCV002592314
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -0.97
- PolyPhen-2 0.07
- SIFT 0.01
- EVE 0.10
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available