A98T (p.Ala98Thr) variant of TBX20 (T-box transcription factor TBX20)
A98T (p.Ala98Thr) 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 0.45 / 1. The record also includes structural context.
A98T (p.Ala98Thr) variant details
- p.Ala98Thr
- rs867045469
- ClinGen CA156929393
- ClinVar RCV003032260
- Ensembl rs867045469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.13
- MetaLR 0.54
- MetaSVM -0.17
- PolyPhen-2 0.16
- SIFT 0.30
- EVE 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available