D230N (p.Asp230Asn) variant of LMNA (Prelamin-A/C)
D230N (p.Asp230Asn) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial partial lipodystrophy, Dunnigan type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D230N (p.Asp230Asn) variant details
- p.Asp230Asn
- rs61214927
- ClinGen CA018460
- ClinVar RCV000015615
- ClinVar RCV000057443
- Pathogenic
- Familial partial lipodystrophy, Dunnigan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- ESM-1b 1.00
- AlphaMissense 0.86
- ClinVar: Pathogenic (Familial partial lipodystrophy, Dunnigan type)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Structural context available
- Cited in: Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). (PMID 17250669)
- Cited in: Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. (PMID 10587585)