L52V (p.Leu52Val) variant of LMNA (Prelamin-A/C)
L52V (p.Leu52Val) 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 Cardiovascular phenotype; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- rs397517895
- ClinGen CA017415
- cosmic curated COSV10073
- ClinVar RCV000041321
- Likely pathogenic
- Cardiovascular phenotype; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)