A78G (p.Ala78Gly) variant of MLC1 (Membrane protein MLC1)
A78G (p.Ala78Gly) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A78G (p.Ala78Gly) variant details
- p.Ala78Gly
- gnomAD 2-210298482-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.81
- MetaSVM 0.75
- CADD 29.80
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available