E19K (p.Glu19Lys) variant of MLC1 (Membrane protein MLC1)
E19K (p.Glu19Lys) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs753537507
- gnomAD 2-210302512-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.83
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available