M80T (p.Met80Thr) variant of MLC1 (Membrane protein MLC1)
M80T (p.Met80Thr) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M80T (p.Met80Thr) variant details
- p.Met80Thr
- gnomAD 2-210294376-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.91
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.86
- MetaSVM 0.99
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available