Q462P (p.Gln462Pro) variant of LMNA (Prelamin-A/C)
Q462P (p.Gln462Pro) 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 Emery-Dreifuss muscular dystrophy 2, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Q462P (p.Gln462Pro) variant details
- p.Gln462Pro
- rs1553265999
- ClinGen CA342822406
- ClinVar RCV000578339
- Ensembl rs1553265999
- Likely pathogenic
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Emery-Dreifuss muscular dystrophy 2, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)