T107N (p.Thr107Asn) variant of CASP9 (Caspase-9)
T107N (p.Thr107Asn) in CASP9 (Caspase-9) 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 0.18 / 1. The record also includes population frequency data and structural context.
T107N (p.Thr107Asn) variant details
- p.Thr107Asn
- ExAC rs757092383
- TOPMed rs757092383
- gnomAD rs757092383
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- CADD 7.95
- PolyPhen-2 0.04
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available