I33M (p.Ile33Met) variant of TIGIT (Q495A1)
I33M (p.Ile33Met) 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.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- rs200039145
- ClinGen CA2550974
- ClinVar RCV004204047
- ESP rs200039145
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.24
- CADD 20.20
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs13098836)
- UniProt: Uncertain significance (in dbSNP:rs13098836)
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available