G73A (p.Gly73Ala) variant of MLC1 (Membrane protein MLC1)
G73A (p.Gly73Ala) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G73A (p.Gly73Ala) variant details
- p.Gly73Ala
- rs1350412735
- gnomAD 2-210298497-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.31
- MetaSVM -0.55
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available