R20W (p.Arg20Trp) variant of MLC1 (Membrane protein MLC1)
R20W (p.Arg20Trp) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs533294413
- cosmic curated COSV10514
- 1000Genomes rs533294413
- ExAC rs533294413
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.88
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available