A4G (p.Ala4Gly) variant of TBX5 (T-box transcription factor TBX5)
A4G (p.Ala4Gly) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- gnomAD rs1414031361
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.21
- CADD 18.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available