R42T (p.Arg42Thr) variant of MLC1 (Membrane protein MLC1)
R42T (p.Arg42Thr) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R42T (p.Arg42Thr) variant details
- p.Arg42Thr
- TOPMed rs1442319800
- gnomAD rs1442319800
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.20
- Population evidence available
- Structural context available