E372D (p.Glu372Asp) variant of LMNA (Prelamin-A/C)
E372D (p.Glu372Asp) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E372D (p.Glu372Asp) variant details
- p.Glu372Asp
- rs1553265736
- ClinGen CA342820502
- ClinVar RCV000677300
- ClinVar RCV001384174
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)