A120V (p.Ala120Val) variant of MLC1 (Membrane protein MLC1)
A120V (p.Ala120Val) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Megalencephalic leukoencephalopathy with subcortical cysts. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
A120V (p.Ala120Val) variant details
- p.Ala120Val
- rs865879286
- ClinGen CA412110701
- ClinVar RCV003560179
- ClinVar RCV005240834
- Pathogenic/Likely pathogenic
- not provided; Megalencephalic leukoencephalopathy with subcortical cysts
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Megalencephalic leukoencephalopathy with subcortic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available