R190Q (p.Arg190Gln) variant of LMNA (Prelamin-A/C)
R190Q (p.Arg190Gln) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R190Q (p.Arg190Gln) variant details
- p.Arg190Gln
- rs267607571
- ClinGen CA018251
- NCI-TCGA Cosmic COSV6154
- cosmic curated COSV61542
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; no)
- EBI: Pathogenic (in EDMD2 and CMD1A)
- UniProt: Pathogenic (in EDMD2 and CMD1A)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular… (PMID 15744034)
- Cited in: Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial… (PMID 20160190)