T102I (p.Thr102Ile) variant of CASP9 (Caspase-9)
T102I (p.Thr102Ile) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CASP9-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T102I (p.Thr102Ile) variant details
- p.Thr102Ile
- rs2308941
- ClinGen CA614659
- ClinVar RCV003924327
- UniProt VAR 015417
- Benign
- CASP9-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.04
- CADD 7.86
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Benign (CASP9-related disorder)
- EBI: Benign (in dbSNP:rs2308941)
- UniProt: Benign (in dbSNP:rs2308941)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available