R41H (p.Arg41His) variant of TGM1 (P22735)
R41H (p.Arg41His) 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; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs768398275
- ExAC rs768398275
- TOPMed rs768398275
- gnomAD rs768398275
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.39
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive congenital ichthyos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.016)
- 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)