H49P (p.His49Pro) variant of MLC1 (Membrane protein MLC1)
H49P (p.His49Pro) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H49P (p.His49Pro) variant details
- p.His49Pro
- ExAC rs751660849
- TOPMed rs751660849
- gnomAD rs751660849
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.06
- SIFT 0.31
- Population evidence available
- Structural context available