P4A (p.Pro4Ala) variant of LMNA (Prelamin-A/C)
P4A (p.Pro4Ala) 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 not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- rs1477323839
- ClinGen CA342805930
- ClinVar RCV002284716
- ClinVar RCV003101634
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)