T51M (p.Thr51Met) variant of MLC1 (Membrane protein MLC1)
T51M (p.Thr51Met) 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 0.34 / 1. The record also includes population frequency data and structural context.
T51M (p.Thr51Met) variant details
- p.Thr51Met
- rs1291047256
- ClinGen CA412112341
- ClinVar RCV001950024
- gnomAD rs1291047256
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM 0.02
- PolyPhen-2 0.07
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available