L62F (p.Leu62Phe) variant of MLC1 (Membrane protein MLC1)
L62F (p.Leu62Phe) 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.
L62F (p.Leu62Phe) variant details
- p.Leu62Phe
- gnomAD 2-210298546-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.30
- MetaSVM -0.46
- CADD 23.40
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Literature evidence available