G40R (p.Gly40Arg) variant of PRRT2 (Q7Z6L0)
G40R (p.Gly40Arg) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- rs1193212149
- ClinGen CA395477349
- ClinVar RCV001347316
- ClinVar RCV006377091
- Uncertain significance
- Episodic kinesigenic dyskinesia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.04
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)