M39I (p.Met39Ile) variant of CASP9 (Caspase-9)
M39I (p.Met39Ile) 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 0.47 / 1. The record also includes population frequency data and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- rs759277328
- ClinGen CA338570948
- ClinVar RCV004311714
- ExAC rs759277328
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.23
- CADD 26.60
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available