S125L (p.Ser125Leu) variant of TBX20 (T-box transcription factor TBX20)
S125L (p.Ser125Leu) 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 0.81 / 1. The record also includes population frequency data and structural context.
S125L (p.Ser125Leu) variant details
- p.Ser125Leu
- rs766692577
- ClinGen CA4217535
- ClinVar RCV002700621
- ExAC rs766692577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.81
- AlphaMissense 0.94
- MetaLR 0.84
- MetaSVM 0.86
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available