R36G (p.Arg36Gly) variant of TGM1 (P22735)
R36G (p.Arg36Gly) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R36G (p.Arg36Gly) variant details
- p.Arg36Gly
- 1000Genomes rs145197904
- ESP rs145197904
- ExAC rs145197904
- TOPMed rs145197904
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.46
- CADD 12.10
- PolyPhen-2 0.05
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available