A275D (p.Ala275Asp) variant of MLC1 (Membrane protein MLC1)
A275D (p.Ala275Asp) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Megalencephalic leukoencephalopathy with subcortical cysts; Megale. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A275D (p.Ala275Asp) variant details
- p.Ala275Asp
- rs764669598
- ClinGen CA10303345
- cosmic curated COSV61119
- ClinVar RCV000669743
- Pathogenic
- not provided; Megalencephalic leukoencephalopathy with subcortical cysts; Megale
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Megalencephalic leukoencephalopathy with subcortic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)