A32T (p.Ala32Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
A32T (p.Ala32Thr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs2135244138
- ClinGen CA382976086
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99876
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.27
- MetaLR 0.17
- MetaSVM -0.98
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.6