L30Q (p.Leu30Gln) variant of CASP9 (Caspase-9)
L30Q (p.Leu30Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- TOPMed rs1370645759
- gnomAD rs1370645759
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.20
- CADD 25.60
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available