M11L (p.Met11Leu) variant of PRRT2 (Q7Z6L0)
M11L (p.Met11Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
M11L (p.Met11Leu) variant details
- p.Met11Leu
- rs746699261
- ClinGen CA395477024
- ClinVar RCV002588220
- ExAC rs746699261
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.13
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available