W514R (p.Trp514Arg) variant of LMNA (Prelamin-A/C)
W514R (p.Trp514Arg) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Emery-Dreifuss muscular dystrophy 2, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
W514R (p.Trp514Arg) variant details
- p.Trp514Arg
- rs879254082
- ClinGen CA10584133
- ClinVar RCV000235628
- Ensembl rs879254082
- Pathogenic
- not provided; Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Emery-Dreifuss muscular dystrophy 2, autosomal dom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available