R84G (p.Arg84Gly) variant of MLC1 (Membrane protein MLC1)
R84G (p.Arg84Gly) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R84G (p.Arg84Gly) variant details
- p.Arg84Gly
- rs1189855706
- gnomAD 2-210298450-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.37
- MetaSVM -0.65
- CADD 22.90
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available