S12F (p.Ser12Phe) variant of TBX20 (T-box transcription factor TBX20)
S12F (p.Ser12Phe) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- gnomAD rs1164563985
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available