M1I (p.Met1Ile) variant of MLC1 (Membrane protein MLC1)
M1I (p.Met1Ile) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1223992285
- ClinGen CA412113007
- ClinVar RCV003988741
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)