P4S (p.Pro4Ser) variant of LMNA (Prelamin-A/C)
P4S (p.Pro4Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs1477323839
- ClinGen CA342805926
- ClinVar RCV001367763
- gnomAD rs1477323839
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.50
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)