R14L (p.Arg14Leu) variant of BCL2L11 (Bcl-2-like protein 11)
R14L (p.Arg14Leu) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 2-111123786-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.52
- CADD 26.40
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available