S29P (p.Ser29Pro) variant of TBX20 (T-box transcription factor TBX20)
S29P (p.Ser29Pro) 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 Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- rs759297040
- ClinGen CA4217603
- ClinVar RCV002447993
- ClinVar RCV006620540
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available