R89W (p.Arg89Trp) variant of TGM1 (P22735)
R89W (p.Arg89Trp) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Autosomal recessive congenital ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R89W (p.Arg89Trp) variant details
- p.Arg89Trp
- rs146189995
- ClinGen CA7131496
- ClinVar RCV001109897
- ClinVar RCV004032147
- Uncertain significance
- Inborn genetic diseases; not provided; Autosomal recessive congenital ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.44
- CADD 16.50
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Autosomal recessive conge)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)