A78D (p.Ala78Asp) variant of MLC1 (Membrane protein MLC1)
A78D (p.Ala78Asp) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A78D (p.Ala78Asp) variant details
- p.Ala78Asp
- gnomAD rs1465846856
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.88
- MetaSVM 1.05
- SIFT 0.00
- Population evidence available
- Structural context available