T30M (p.Thr30Met) variant of TIGIT (Q495A1)
T30M (p.Thr30Met) in TIGIT (Q495A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T30M (p.Thr30Met) variant details
- p.Thr30Met
- rs376892258
- ClinGen CA2550968
- NCI-TCGA Cosmic COSV6732
- cosmic curated COSV67328
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0549
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available