M11T (p.Met11Thr) variant of PRRT2 (Q7Z6L0)
M11T (p.Met11Thr) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M11T (p.Met11Thr) variant details
- p.Met11Thr
- rs796052942
- ClinGen CA395477027
- ClinVar RCV001230081
- ClinVar RCV005262316
- Uncertain significance
- Episodic kinesigenic dyskinesia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- AlphaMissense 0.45
- MetaLR 0.22
- MetaSVM -0.61
- CADD 22.90
- PolyPhen-2 0.28
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)