R14K (p.Arg14Lys) variant of TIGIT (Q495A1)
R14K (p.Arg14Lys) 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 0.22 / 1. The record also includes population frequency data and structural context.
R14K (p.Arg14Lys) variant details
- p.Arg14Lys
- rs1037690852
- ClinGen CA81660457
- ClinVar RCV004074678
- TOPMed rs1037690852
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available