F68S (p.Phe68Ser) variant of MLC1 (Membrane protein MLC1)
F68S (p.Phe68Ser) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F68S (p.Phe68Ser) variant details
- p.Phe68Ser
- rs1033392367
- gnomAD 2-210298539-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.71
- MetaSVM 0.46
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available