P17A (p.Pro17Ala) variant of TBX5 (T-box transcription factor TBX5)
P17A (p.Pro17Ala) 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.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- gnomAD rs1430022884
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available