R36L (p.Arg36Leu) variant of TGM1 (P22735)
R36L (p.Arg36Leu) 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 0.51 / 1. The record also includes population frequency data and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- ESP rs367872941
- ExAC rs367872941
- TOPMed rs367872941
- gnomAD rs367872941
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.47
- CADD 16.90
- PolyPhen-2 0.07
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available