F54I (p.Phe54Ile) variant of MLC1 (Membrane protein MLC1)
F54I (p.Phe54Ile) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F54I (p.Phe54Ile) variant details
- p.Phe54Ile
- gnomAD 2-210298561-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.28
- MetaSVM -0.50
- CADD 23.90
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available