I140M (p.Ile140Met) variant of TGM1 (P22735)
I140M (p.Ile140Met) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I140M (p.Ile140Met) variant details
- p.Ile140Met
- rs139208806
- 1000Genomes rs139208806
- ESP rs139208806
- ExAC rs139208806
- Pathogenic/Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.61
- CADD 14.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)