R89H (p.Arg89His) variant of LMNA (Prelamin-A/C)
R89H (p.Arg89His) 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; not specified. 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.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs59040894
- ClinGen CA017833
- ClinVar RCV000041342
- ClinVar RCV005089375
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not specified)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)