F47L (p.Phe47Leu) variant of MLC1 (Membrane protein MLC1)
F47L (p.Phe47Leu) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- rs201406310
- gnomAD 2-210302507-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.53
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available