M11I (p.Met11Ile) variant of SLC6A3 (Q01959)
M11I (p.Met11Ile) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinsonism-dystonia, infantile; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- rs143342582
- NCI-TCGA Cosmic COSV5436
- TOPMed rs1187100099
- ClinGen CA3186503
- Uncertain significance
- Parkinsonism-dystonia, infantile; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.68
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile; not provided; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-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)