T107I (p.Thr107Ile) variant of CASP9 (Caspase-9)
T107I (p.Thr107Ile) in CASP9 (Caspase-9) 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 0.19 / 1. The record also includes population frequency data and structural context.
T107I (p.Thr107Ile) variant details
- p.Thr107Ile
- rs757092383
- ClinGen CA614652
- ClinVar RCV004260667
- ExAC rs757092383
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- CADD 11.40
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available