L62V (p.Leu62Val) variant of MLC1 (Membrane protein MLC1)
L62V (p.Leu62Val) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L62V (p.Leu62Val) variant details
- p.Leu62Val
- rs1436261970
- gnomAD 2-210298543-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.79
- MetaSVM 0.73
- CADD 26.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available