E36K (p.Glu36Lys) variant of TIGIT (Q495A1)
E36K (p.Glu36Lys) 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 0.21 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs142063959
- ClinGen CA2550975
- cosmic curated COSV67329
- ClinVar RCV004190556
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.17
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available