G73R (p.Gly73Arg) variant of MLC1 (Membrane protein MLC1)
G73R (p.Gly73Arg) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- rs1729986593
- TOPMed rs1729986593
- ClinGen CA412111631
- ClinVar RCV003560180
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available