L32P (p.Leu32Pro) variant of TBX5 (T-box transcription factor TBX5)
L32P (p.Leu32Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available