E4Q (p.Glu4Gln) variant of MLC1 (Membrane protein MLC1)
E4Q (p.Glu4Gln) 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 structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- Ensembl rs2062243555
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.68
- MetaSVM 0.47
- SIFT 0.00
- Structural context available