L22R (p.Leu22Arg) variant of TBX5 (T-box transcription factor TBX5)
L22R (p.Leu22Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- TOPMed rs1444078249
- gnomAD rs1444078249
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.26
- CADD 24.70
- PolyPhen-2 0.74
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available