A79V (p.Ala79Val) variant of TBX5 (T-box transcription factor TBX5)
A79V (p.Ala79Val) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- ExAC rs763219727
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.65
- CADD 27.10
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available