R389P (p.Arg389Pro) variant of TGM1 (P22735)
R389P (p.Arg389Pro) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive congenital ichthyosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R389P (p.Arg389Pro) variant details
- p.Arg389Pro
- rs121918723
- ExAC rs121918723
- TOPMed rs121918723
- gnomAD rs121918723
- Pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.98
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)