Q44E (p.Gln44Glu) variant of CASP9 (Caspase-9)
Q44E (p.Gln44Glu) 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 0.25 / 1. The record also includes population frequency data and structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- rs201250353
- ClinGen CA614728
- ClinVar RCV003954416
- ESP rs201250353
- Benign
- CASP9-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.04
- CADD 22.30
- PolyPhen-2 0.96
- SIFT 0.16
- ClinVar: Benign (CASP9-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 1)
- Structural context available