R46H (p.Arg46His) variant of TGM1 (P22735)
R46H (p.Arg46His) in TGM1 (P22735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs777960926
- ExAC rs777960926
- TOPMed rs777960926
- gnomAD rs777960926
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available