S29F (p.Ser29Phe) variant of TBX20 (T-box transcription factor TBX20)
S29F (p.Ser29Phe) 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 0.43 / 1. The record also includes structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- rs13237089
- ClinGen CA367265539
- NCI-TCGA Cosmic COSV1012
- ClinVar RCV002928078
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.06
- MetaLR 0.49
- MetaSVM 0.02
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available