K486N (p.Lys486Asn) variant of LMNA (Prelamin-A/C)
K486N (p.Lys486Asn) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K486N (p.Lys486Asn) variant details
- p.Lys486Asn
- rs59981161
- ClinGen CA017278
- ClinVar RCV000057301
- UniProt VAR 009994
- Pathogenic
- Familial partial lipodystrophy, Dunnigan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 24.30
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Pathogenic (Familial partial lipodystrophy, Dunnigan type)
- EBI: Pathogenic (in FPLD2)
- UniProt: Pathogenic (in FPLD2)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial… (PMID 11792809)
- Cited in: Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. (PMID 10587585)