D446G (p.Asp446Gly) variant of LMNA (Prelamin-A/C)
D446G (p.Asp446Gly) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D446G (p.Asp446Gly) variant details
- p.Asp446Gly
- rs58541611
- ClinGen CA342822060
- ClinVar RCV000593108
- ClinVar RCV001387373
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.97
- MetaSVM 1.11
- CADD 33.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)