Q15P (p.Gln15Pro) variant of LMNA (Prelamin-A/C)
Q15P (p.Gln15Pro) 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 Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q15P (p.Gln15Pro) variant details
- p.Gln15Pro
- rs748918487
- ClinGen CA053465
- ClinVar RCV001341373
- ClinVar RCV004808019
- Uncertain significance
- Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)