A34E (p.Ala34Glu) variant of TBX20 (T-box transcription factor TBX20)
A34E (p.Ala34Glu) in TBX20 (T-box transcription factor TBX20) 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 0.31 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- rs760317856
- ClinGen CA4217600
- NCI-TCGA Cosmic COSV1012
- ClinVar RCV003714583
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available