I97T (p.Ile97Thr) variant of HAVCR2 (Q8TDQ0)
I97T (p.Ile97Thr) in HAVCR2 (Q8TDQ0) 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 0.58 / 1. The record also includes population frequency data.
I97T (p.Ile97Thr) variant details
- p.Ile97Thr
- cosmic curated COSV57153
- TOPMed rs1158946084
- gnomAD rs1158946084
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.54
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: uncertain significance (in SPTCL)
- UniProt: Uncertain significance (in SPTCL)
- Most common in the South Asian population (allele frequency 9.3e-05)