S71R (p.Ser71Arg) variant of TBX20 (T-box transcription factor TBX20)
S71R (p.Ser71Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar 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 0.16 / 1. The record also includes population frequency data and structural context.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- Ensembl rs1790275819
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.19
- CADD 9.91
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available