S40* (p.Ser40Ter) variant of MLC1 (Membrane protein MLC1)
S40* (p.Ser40Ter) in MLC1 (Membrane protein MLC1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
S40* (p.Ser40Ter) variant details
- p.Ser40Ter
- rs2033708755
- ClinGen CA412112572
- ClinVar RCV001969891
- TOPMed rs2033708755
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.24
- MetaLR 0.81
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available