M16I (p.Met16Ile) variant of BCL2 (Apoptosis regulator Bcl-2)
M16I (p.Met16Ile) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M16I (p.Met16Ile) variant details
- p.Met16Ile
- TOPMed rs776360417
- gnomAD rs776360417
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.86
- CADD 17.30
- PolyPhen-2 0.08
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available