G73C (p.Gly73Cys) variant of MLC1 (Membrane protein MLC1)
G73C (p.Gly73Cys) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G73C (p.Gly73Cys) variant details
- p.Gly73Cys
- rs199843326
- gnomAD 2-210298498-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.61
- MetaSVM 0.44
- CADD 29.30
- Population evidence available
- Structural context available
- Literature evidence available