L32H (p.Leu32His) variant of TBX5 (T-box transcription factor TBX5)
L32H (p.Leu32His) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L32H (p.Leu32His) variant details
- p.Leu32His
- TOPMed rs1871999364
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available