M540I (p.Met540Ile) variant of LMNA (Prelamin-A/C)
M540I (p.Met540Ile) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mandibuloacral dysplasia with type A lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
M540I (p.Met540Ile) variant details
- p.Met540Ile
- rs483352811
- ClinGen CA017595
- ClinVar RCV000087081
- gnomAD rs483352811
- Pathogenic
- Mandibuloacral dysplasia with type A lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 24.60
- PolyPhen-2 0.79
- SIFT 0.22
- ClinVar: Pathogenic (Mandibuloacral dysplasia with type A lipodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available