L43Q (p.Leu43Gln) variant of MLC1 (Membrane protein MLC1)
L43Q (p.Leu43Gln) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- gnomAD rs2062239363
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.55
- MetaSVM 0.29
- SIFT 0.02
- Structural context available