C61S (p.Cys61Ser) variant of MLC1 (Membrane protein MLC1)
C61S (p.Cys61Ser) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C61S (p.Cys61Ser) variant details
- p.Cys61Ser
- gnomAD rs1056395452
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- ESM-1b 0.00
- AlphaMissense 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available