R14W (p.Arg14Trp) variant of MLC1 (Membrane protein MLC1)
R14W (p.Arg14Trp) 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 0.52 / 1. The record also includes population frequency data and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs370132302
- ClinGen CA10303699
- cosmic curated COSV61116
- ClinVar RCV001867769
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available