N456S (p.Asn456Ser) variant of LMNA (Prelamin-A/C)
N456S (p.Asn456Ser) 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 Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
N456S (p.Asn456Ser) variant details
- p.Asn456Ser
- rs60992550
- ClinGen CA342822250
- ClinVar RCV004012546
- ClinVar RCV005103324
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.91
- CADD 27.90
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; Ca)
- EBI: Likely pathogenic (in EDMD2)
- UniProt: Likely pathogenic (in EDMD2)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)