R84Q (p.Arg84Gln) variant of MLC1 (Membrane protein MLC1)
R84Q (p.Arg84Gln) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs141590730
- gnomAD 2-210298485-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.54
- MetaLR 0.63
- MetaSVM 0.45
- CADD 30.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available