T528P (p.Thr528Pro) variant of LMNA (Prelamin-A/C)
T528P (p.Thr528Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
T528P (p.Thr528Pro) variant details
- p.Thr528Pro
- rs1187380696
- ClinGen CA342823494
- ClinVar RCV000593248
- gnomAD rs1187380696
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available