A529T (p.Ala529Thr) variant of LMNA (Prelamin-A/C)
A529T (p.Ala529Thr) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A529T (p.Ala529Thr) variant details
- p.Ala529Thr
- rs121912494
- ClinGen CA017528
- ClinVar RCV000015619
- ClinVar RCV000057331
- Pathogenic
- Mandibuloacral dysplasia with type A lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.54
- MetaSVM -0.25
- CADD 17.20
- ClinVar: Pathogenic (Mandibuloacral dysplasia with type A lipodystrophy)
- EBI: Pathogenic (in MADA)
- UniProt: Pathogenic (in MADA)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. (PMID 17935239)