L306P (p.Leu306Pro) variant of LMNA (Prelamin-A/C)
L306P (p.Leu306Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Dilated cardiomyopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L306P (p.Leu306Pro) variant details
- p.Leu306Pro
- rs730882262
- ClinGen CA10584123
- ClinVar RCV000235583
- ClinVar RCV000500335
- Likely pathogenic
- not provided; Dilated cardiomyopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Dilated cardiomyopathy 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: LMNA-Related Dilated Cardiomyopathy. (PMID 20301717)