R2S (p.Arg2Ser) variant of TIGIT (Q495A1)
R2S (p.Arg2Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- rs977245811
- NCI-TCGA Cosmic COSV6732
- cosmic curated COSV67329
- TOPMed rs977245811
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available