A78P (p.Ala78Pro) variant of MLC1 (Membrane protein MLC1)
A78P (p.Ala78Pro) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A78P (p.Ala78Pro) variant details
- p.Ala78Pro
- rs1176348773
- gnomAD 2-210298552-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.92
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.89
- MetaSVM 1.05
- CADD 28.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available