L62R (p.Leu62Arg) variant of MLC1 (Membrane protein MLC1)
L62R (p.Leu62Arg) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L62R (p.Leu62Arg) variant details
- p.Leu62Arg
- rs766723318
- gnomAD 2-210298542-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.94
- ESM-1b 0.37
- AlphaMissense 0.93
- MetaLR 0.84
- MetaSVM 0.90
- CADD 31.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available