P123A (p.Pro123Ala) variant of CASP9 (Caspase-9)
P123A (p.Pro123Ala) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P123A (p.Pro123Ala) variant details
- p.Pro123Ala
- 1000Genomes rs543283389
- ExAC rs543283389
- TOPMed rs543283389
- gnomAD rs543283389
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.03
- CADD 15.80
- PolyPhen-2 0.58
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available