T10P (p.Thr10Pro) variant of LMNA (Prelamin-A/C)
T10P (p.Thr10Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
T10P (p.Thr10Pro) variant details
- p.Thr10Pro
- rs2527829303
- ClinGen CA342806835
- ClinVar RCV002650630
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Likely pathogenic (found in an atypical progeroid patient diagnosed as Seip syndrom)
- UniProt: Likely pathogenic (found in an atypical progeroid patient diagnosed as Seip syndrom)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)