R29S (p.Arg29Ser) variant of BCL2L11 (Bcl-2-like protein 11)
R29S (p.Arg29Ser) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- gnomAD 2-111123832-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.30
- MetaLR 0.15
- MetaSVM -0.95
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available