F54L (p.Phe54Leu) variant of MLC1 (Membrane protein MLC1)
F54L (p.Phe54Leu) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- gnomAD 2-210298547-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.84
- ESM-1b 0.00
- AlphaMissense 0.73
- MetaLR 0.91
- MetaSVM 0.84
- CADD 25.10
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available