G33R (p.Gly33Arg) variant of TGM1 (P22735)
G33R (p.Gly33Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive congenital ichthyosis 1; Inborn genetic diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs142455594
- ESP rs142455594
- ExAC rs142455594
- TOPMed rs142455594
- Conflicting interpretations
- not provided; Autosomal recessive congenital ichthyosis 1; Inborn genetic diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.29
- CADD 6.17
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive congenital ichthyosis 1; Inbor)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)