G22S (p.Gly22Ser) variant of PRRT2 (Q7Z6L0)
G22S (p.Gly22Ser) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs1900059601
- ClinGen CA395477132
- ClinVar RCV002040621
- ClinVar RCV003987956
- Uncertain significance
- Episodic kinesigenic dyskinesia; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.06
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia; Inborn genetic diseases; not sp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)