T10I (p.Thr10Ile) variant of LMNA (Prelamin-A/C)
T10I (p.Thr10Ile) 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 Inborn genetic diseases; not provided; Familial partial lipodystrophy, Dunnigan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs57077886
- ClinGen CA017867
- ClinVar RCV000015599
- ClinVar RCV000057387
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Familial partial lipodystrophy, Dunnigan
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Familial partial lipodyst)
- EBI: Pathogenic (found in an atypical progeroid patient diagnosed as Seip syndrom)
- UniProt: Pathogenic (found in an atypical progeroid patient diagnosed as Seip syndrom)
- Population evidence available
- Structural context available
- Cited in: Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. (PMID 12920062)
- Cited in: Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. (PMID 15060110)