A26S (p.Ala26Ser) variant of MLC1 (Membrane protein MLC1)
A26S (p.Ala26Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- 1000Genomes rs201522059
- ExAC rs201522059
- TOPMed rs201522059
- gnomAD rs201522059
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available