R46L (p.Arg46Leu) variant of TGM1 (P22735)
R46L (p.Arg46Leu) in TGM1 (P22735) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- ExAC rs777960926
- TOPMed rs777960926
- gnomAD rs777960926
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.61
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available