L162P (p.Leu162Pro) variant of LMNA (Prelamin-A/C)
L162P (p.Leu162Pro) 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 Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
L162P (p.Leu162Pro) variant details
- p.Leu162Pro
- rs267607594
- ClinGen CA018144
- ClinVar RCV000041352
- ClinVar RCV000057410
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (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)