L30R (p.Leu30Arg) variant of CASP9 (Caspase-9)
L30R (p.Leu30Arg) 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.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- TOPMed rs1370645759
- gnomAD rs1370645759
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.30
- CADD 26.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available