A544T (p.Ala544Thr) variant of UBE3A (Ubiquitin-protein ligase E3A)
A544T (p.Ala544Thr) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
A544T (p.Ala544Thr) variant details
- p.Ala544Thr
- rs755392575
- ClinGen CA7435506
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51662
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.69
- MetaLR 0.54
- MetaSVM 0.09
- PolyPhen-2 0.99
- SIFT 0.04
- MutPred 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available