S40L (p.Ser40Leu) variant of MLC1 (Membrane protein MLC1)
S40L (p.Ser40Leu) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- cosmic curated COSV61116
- TOPMed rs2033708755
- gnomAD rs2033708755
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available