A28T (p.Ala28Thr) variant of CASP9 (Caspase-9)
A28T (p.Ala28Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs759311957
- ExAC rs759311957
- TOPMed rs759311957
- gnomAD rs759311957
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- CADD 17.10
- PolyPhen-2 0.27
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs1052571)
- UniProt: Uncertain significance (in dbSNP:rs1052571)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available