R22Q (p.Arg22Gln) variant of MLC1 (Membrane protein MLC1)
R22Q (p.Arg22Gln) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs184241759
- ClinGen CA10303690
- ClinVar RCV000479932
- ClinVar RCV000490481
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.72
- MetaSVM 0.26
- PolyPhen-2 0.22
- 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)