G24E (p.Gly24Glu) variant of PRRT2 (Q7Z6L0)
G24E (p.Gly24Glu) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- rs201267591
- ClinGen CA280409031
- ClinVar RCV003067021
- ClinVar RCV004960959
- Uncertain significance
- Inborn genetic diseases; not provided; Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Episodic kinesigenic dysk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- 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)