R142P (p.Arg142Pro) variant of TGM1 (P22735)
R142P (p.Arg142Pro) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R142P (p.Arg142Pro) variant details
- p.Arg142Pro
- rs121918718
- ClinGen CA389277933
- ClinVar RCV000013317
- ExAC rs121918718
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Structural context available
- Cited in: Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. (PMID 11298529)
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)