G8E (p.Gly8Glu) variant of BCL2 (Apoptosis regulator Bcl-2)
G8E (p.Gly8Glu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- cosmic curated COSV61377
- ExAC rs775404824
- gnomAD rs775404824
- cosmic curated COSV61391
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -1.10
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available