Q198K (p.Gln198Lys) variant of LMNA (Prelamin-A/C)
Q198K (p.Gln198Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q198K (p.Gln198Lys) variant details
- p.Gln198Lys
- rs1553265165
- ClinGen CA342816990
- ClinVar RCV001935001
- Ensembl rs1553265165
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 23.80
- PolyPhen-2 0.55
- SIFT 0.12
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)