R22W (p.Arg22Trp) variant of MLC1 (Membrane protein MLC1)
R22W (p.Arg22Trp) 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 and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs202135704
- ClinGen CA10303691
- cosmic curated COSV61116
- ClinVar RCV000513476
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.87
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available