R6Q (p.Arg6Gln) variant of BCL2L1 (Bcl-2-like protein 1)
R6Q (p.Arg6Gln) in BCL2L1 (Bcl-2-like protein 1) is a missense change. 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.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- 1000Genomes rs148274815
- ESP rs148274815
- ExAC rs148274815
- TOPMed rs148274815
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.34
- CADD 29.50
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.014)
- Structural context available