L83R (p.Leu83Arg) variant of MLC1 (Membrane protein MLC1)
L83R (p.Leu83Arg) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L83R (p.Leu83Arg) variant details
- p.Leu83Arg
- rs1210353436
- gnomAD 2-210298440-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.93
- ESM-1b 0.43
- AlphaMissense 0.97
- MetaLR 0.77
- MetaSVM 0.81
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available