E69Q (p.Glu69Gln) variant of TBX5 (T-box transcription factor TBX5)
E69Q (p.Glu69Gln) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- cosmic curated COSV10738
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.46
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available