T135I (p.Thr135Ile) variant of HAVCR2 (Q8TDQ0)
T135I (p.Thr135Ile) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
T135I (p.Thr135Ile) variant details
- p.Thr135Ile
- TOPMed rs1561623689
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.02
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.2e-06)