D31E (p.Asp31Glu) variant of MLC1 (Membrane protein MLC1)
D31E (p.Asp31Glu) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- 1000Genomes rs199625892
- ESP rs199625892
- ExAC rs199625892
- TOPMed rs199625892
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available