R71Q (p.Arg71Gln) variant of TGM1 (P22735)
R71Q (p.Arg71Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
R71Q (p.Arg71Gln) variant details
- p.Arg71Gln
- ESP rs374035643
- ExAC rs374035643
- TOPMed rs374035643
- gnomAD rs374035643
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- CADD 16.60
- PolyPhen-2 0.05
- SIFT 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.17)
- Structural context available