V91A (p.Val91Ala) variant of TBX5 (T-box transcription factor TBX5)
V91A (p.Val91Ala) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V91A (p.Val91Ala) variant details
- p.Val91Ala
- TOPMed rs775593443
- gnomAD rs775593443
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.73
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available