P5A (p.Pro5Ala) variant of BCL2L11 (Bcl-2-like protein 11)
P5A (p.Pro5Ala) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- TOPMed rs1250218441
- gnomAD rs1250218441
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.53
- MetaLR 0.26
- MetaSVM -0.51
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available