L9P (p.Leu9Pro) variant of CASP9 (Caspase-9)
L9P (p.Leu9Pro) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, 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 0.55 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs754305322
- ClinGen CA614759
- ClinVar RCV004074326
- ExAC rs754305322
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.019)
- Structural context available