C24F (p.Cys24Phe) variant of TBX5 (T-box transcription factor TBX5)
C24F (p.Cys24Phe) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- ExAC rs772587337
- gnomAD rs772587337
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.25
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available