P5L (p.Pro5Leu) variant of BCL2L11 (Bcl-2-like protein 11)
P5L (p.Pro5Leu) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs749642894
- ExAC rs749642894
- TOPMed rs749642894
- gnomAD rs749642894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.37
- MetaLR 0.26
- MetaSVM -0.51
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available