A21V (p.Ala21Val) variant of TBX20 (T-box transcription factor TBX20)
A21V (p.Ala21Val) 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 0.66 / 1. The record also includes structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1584361753
- ClinGen CA367265586
- ClinVar RCV002838286
- Ensembl rs1584361753
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.43
- PolyPhen-2 0.99
- SIFT 0.04
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available