A31P (p.Ala31Pro) variant of TBX5 (T-box transcription factor TBX5)
A31P (p.Ala31Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A31P (p.Ala31Pro) variant details
- p.Ala31Pro
- gnomAD rs1300164371
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.18
- CADD 9.01
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available