T17M (p.Thr17Met) variant of MLC1 (Membrane protein MLC1)
T17M (p.Thr17Met) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T17M (p.Thr17Met) variant details
- p.Thr17Met
- rs759692106
- ClinGen CA10303694
- cosmic curated COSV61116
- ClinVar RCV002651908
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)