L20Q (p.Leu20Gln) variant of CASP9 (Caspase-9)
L20Q (p.Leu20Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L20Q (p.Leu20Gln) variant details
- p.Leu20Gln
- 1000Genomes rs542382800
- ExAC rs542382800
- gnomAD rs542382800
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.51
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available