E25Q (p.Glu25Gln) variant of CASP3 (Caspase-3)
E25Q (p.Glu25Gln) in CASP3 (Caspase-3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- ExAC rs776881401
- TOPMed rs776881401
- gnomAD rs776881401
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available