R36C (p.Arg36Cys) variant of TGM1 (P22735)
R36C (p.Arg36Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- 1000Genomes rs145197904
- ESP rs145197904
- ExAC rs145197904
- TOPMed rs145197904
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.49
- CADD 19.10
- PolyPhen-2 0.29
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available