I26T (p.Ile26Thr) variant of LMNA (Prelamin-A/C)
I26T (p.Ile26Thr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs794728600
- ClinGen CA018621
- ClinVar RCV000182380
- ClinVar RCV004992063
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available