R84S (p.Arg84Ser) variant of MLC1 (Membrane protein MLC1)
R84S (p.Arg84Ser) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in MLC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
R84S (p.Arg84Ser) variant details
- p.Arg84Ser
- TOPMed rs281875311
- Likely pathogenic
- in MLC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- ESM-1b 0.00
- AlphaMissense 0.97
- EBI: Likely pathogenic (in MLC1)
- UniProt: Likely pathogenic (in MLC1)
- Structural context available