I54V (p.Ile54Val) variant of TBX5 (T-box transcription factor TBX5)
I54V (p.Ile54Val) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- ESP rs145890934
- TOPMed rs145890934
- gnomAD rs145890934
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.25
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available