F18V (p.Phe18Val) variant of TBX20 (T-box transcription factor TBX20)
F18V (p.Phe18Val) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
F18V (p.Phe18Val) variant details
- p.Phe18Val
- ExAC rs749691857
- TOPMed rs749691857
- gnomAD rs749691857
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.82
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available