L29M (p.Leu29Met) variant of CASP9 (Caspase-9)
L29M (p.Leu29Met) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- TOPMed rs1202895418
- gnomAD rs1202895418
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available