R2P (p.Arg2Pro) variant of TIGIT (Q495A1)
R2P (p.Arg2Pro) 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 0.15 / 1. The record also includes population frequency data and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- ESP rs138322602
- ExAC rs138322602
- TOPMed rs138322602
- gnomAD rs138322602
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- CADD 13.90
- PolyPhen-2 0.11
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available