R47L (p.Arg47Leu) variant of BCL2L2 (Bcl-2-like protein 2)
R47L (p.Arg47Leu) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- gnomAD 14-23307907-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.31
- CADD 30.00
- PolyPhen-2 0.67
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available