R2H (p.Arg2His) variant of TIGIT (Q495A1)
R2H (p.Arg2His) in TIGIT (Q495A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- rs138322602
- ESP rs138322602
- ExAC rs138322602
- TOPMed rs138322602
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0703
- REVEL 0.04
- CADD 5.75
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available