F54V (p.Phe54Val) variant of MLC1 (Membrane protein MLC1)
F54V (p.Phe54Val) 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.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- rs1690216662
- gnomAD 2-210298561-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.48
- MetaSVM -0.01
- CADD 29.80
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available