M80V (p.Met80Val) variant of MLC1 (Membrane protein MLC1)
M80V (p.Met80Val) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M80V (p.Met80Val) variant details
- p.Met80Val
- rs751799521
- gnomAD 2-210294377-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.68
- MetaSVM 0.49
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available