Q54H (p.Gln54His) variant of CASP9 (Caspase-9)
Q54H (p.Gln54His) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- 1000Genomes rs199610531
- ExAC rs199610531
- gnomAD rs199610531
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available