Y12C (p.Tyr12Cys) variant of MLC1 (Membrane protein MLC1)
Y12C (p.Tyr12Cys) 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 0.23 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- 1000Genomes rs142192701
- ESP rs142192701
- ExAC rs142192701
- TOPMed rs142192701
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- ESM-1b 0.00
- AlphaMissense 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available