P80R (p.Pro80Arg) variant of TGM1 (P22735)
P80R (p.Pro80Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
P80R (p.Pro80Arg) variant details
- p.Pro80Arg
- ExAC rs767307328
- TOPMed rs767307328
- gnomAD rs767307328
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.23
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available