A32T (p.Ala32Thr) variant of BCL2L11 (Bcl-2-like protein 11)
A32T (p.Ala32Thr) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- cosmic curated COSV58032
- ExAC rs200974474
- TOPMed rs200974474
- gnomAD rs200974474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.42
- MetaLR 0.27
- MetaSVM -0.53
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available