A26T (p.Ala26Thr) variant of MLC1 (Membrane protein MLC1)
A26T (p.Ala26Thr) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs201522059
- ClinGen CA10303686
- ClinVar RCV000901502
- ClinVar RCV001274277
- Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.53
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Likely benign (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)