R2G (p.Arg2Gly) variant of TIGIT (Q495A1)
R2G (p.Arg2Gly) in TIGIT (Q495A1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- TOPMed rs977245811
- gnomAD rs977245811
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available