G73D (p.Gly73Asp) variant of MLC1 (Membrane protein MLC1)
G73D (p.Gly73Asp) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- rs1350412735
- gnomAD 2-210298497-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.40
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available