G33R (p.Gly33Arg) variant of BCL2 (Apoptosis regulator Bcl-2)
G33R (p.Gly33Arg) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- cosmic curated COSV10520
- cosmic curated COSV61376
- ExAC rs767612613
- gnomAD rs767612613
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.04
- CADD 18.70
- PolyPhen-2 0.95
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available