A32V (p.Ala32Val) variant of MLC1 (Membrane protein MLC1)
A32V (p.Ala32Val) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Megalencephalic leukoencephalopathy with subcortical cysts 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs200382943
- ClinGen CA10303683
- cosmic curated COSV61116
- ClinVar RCV000671823
- Conflicting interpretations
- not provided; Megalencephalic leukoencephalopathy with subcortical cysts 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.38
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Megalencephalic leukoencephalopathy with subcortic)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)