P4R (p.Pro4Arg) variant of LMNA (Prelamin-A/C)
P4R (p.Pro4Arg) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs267607620
- ClinGen CA016863
- ClinVar RCV000057257
- ClinVar RCV000818990
- Pathogenic
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 24.10
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)