R2C (p.Arg2Cys) variant of TIGIT (Q495A1)
R2C (p.Arg2Cys) 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 0.32 / 1. The record also includes population frequency data and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- rs977245811
- ClinGen CA81660403
- NCI-TCGA Cosmic COSV6732
- ClinVar RCV004088397
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- CADD 22.10
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available