R47Q (p.Arg47Gln) variant of BCL2L2 (Bcl-2-like protein 2)
R47Q (p.Arg47Gln) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- cosmic curated COSV51637
- TOPMed rs1223928401
- gnomAD rs1223928401
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.34
- CADD 31.00
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available