M39I (p.Met39Ile) variant of CASP3 (Caspase-3)
M39I (p.Met39Ile) in CASP3 (Caspase-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- rs1006886327
- TOPMed rs1006886327
- gnomAD rs1006886327
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- CADD 25.10
- PolyPhen-2 0.81
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available