G144R (p.Gly144Arg) variant of TGM1 (P22735)
G144R (p.Gly144Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G144R (p.Gly144Arg) variant details
- p.Gly144Arg
- rs778635368
- ExAC rs778635368
- TOPMed rs778635368
- gnomAD rs778635368
- Pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PMID 11251583)