L38I (p.Leu38Ile) variant of PRRT2 (Q7Z6L0)
L38I (p.Leu38Ile) 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 0.21 / 1. The record also includes population frequency data and structural context.
L38I (p.Leu38Ile) variant details
- p.Leu38Ile
- rs1208143772
- ClinGen CA395477327
- ClinVar RCV001987912
- TOPMed rs1208143772
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available