R2L (p.Arg2Leu) variant of TIGIT (Q495A1)
R2L (p.Arg2Leu) 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 0.08 / 1. The record also includes population frequency data and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- ESP rs138322602
- ExAC rs138322602
- TOPMed rs138322602
- gnomAD rs138322602
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0768
- REVEL 0.05
- CADD 8.00
- PolyPhen-2 0.04
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available