M371L (p.Met371Leu) variant of LMNA (Prelamin-A/C)
M371L (p.Met371Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular dystrophy due to LMNA mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
M371L (p.Met371Leu) variant details
- p.Met371Leu
- TOPMed rs1270221130
- gnomAD rs1270221130
- Likely pathogenic
- Congenital muscular dystrophy due to LMNA mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.71
- ESM-1b 0.33
- AlphaMissense 0.70
- MetaLR 0.42
- MetaSVM -0.25
- SIFT 0.13
- ClinVar: Likely pathogenic (Congenital muscular dystrophy due to LMNA mutation)
- EBI: Variant of uncertain significance (in EDMD2)
- UniProt: Uncertain significance (in EDMD2)
- Structural context available