T30K (p.Thr30Lys) variant of TIGIT (Q495A1)
T30K (p.Thr30Lys) in TIGIT (Q495A1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T30K (p.Thr30Lys) variant details
- p.Thr30Lys
- 1000Genomes rs376892258
- ESP rs376892258
- ExAC rs376892258
- TOPMed rs376892258
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0611
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.97
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available