R12R (p.Arg12Arg) variant of BCL2 (Apoptosis regulator Bcl-2)
R12R (p.Arg12Arg) in BCL2 (Apoptosis regulator Bcl-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R12R (p.Arg12Arg) variant details
- p.Arg12Arg
- rs1414251123
- gnomAD 18-63318631-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 9.94
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available