P4L (p.Pro4Leu) variant of LMNA (Prelamin-A/C)
P4L (p.Pro4Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs267607620
- ClinGen CA342805944
- ClinVar RCV001896572
- ClinVar RCV004010788
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.62
- ESM-1b 0.67
- AlphaMissense 0.84
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Primary dilated cardiomyopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)