R20Q (p.Arg20Gln) variant of MLC1 (Membrane protein MLC1)
R20Q (p.Arg20Gln) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs766921234
- ClinGen CA10303692
- ClinVar RCV001278855
- ExAC rs766921234
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)