P5S (p.Pro5Ser) variant of BCL2L11 (Bcl-2-like protein 11)
P5S (p.Pro5Ser) 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 0.54 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1250218441
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- TOPMed rs1250218441
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.52
- MetaLR 0.26
- MetaSVM -0.51
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 9.2e-05)
- Structural context available