T19I (p.Thr19Ile) variant of LMNA (Prelamin-A/C)
T19I (p.Thr19Ile) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- gnomAD rs1200971610
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 24.80
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available