Y12S (p.Tyr12Ser) variant of MLC1 (Membrane protein MLC1)
Y12S (p.Tyr12Ser) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y12S (p.Tyr12Ser) variant details
- p.Tyr12Ser
- rs142192701
- ClinGen CA10303700
- ClinVar RCV000301579
- ClinVar RCV005090547
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)