R128K (p.Arg128Lys) variant of TBX20 (T-box transcription factor TBX20)
R128K (p.Arg128Lys) 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 0.90 / 1. The record also includes structural context.
R128K (p.Arg128Lys) variant details
- p.Arg128Lys
- rs2128715969
- ClinGen CA367264861
- ClinVar RCV002008414
- Ensembl rs2128715969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available