P42L (p.Pro42Leu) variant of PRRT2 (Q7Z6L0)
P42L (p.Pro42Leu) 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; Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs1166053009
- ClinGen CA395477376
- ClinVar RCV000781986
- ClinVar RCV000815756
- Uncertain significance
- Inborn genetic diseases; Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.03
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)