A11V (p.Ala11Val) variant of TBX5 (T-box transcription factor TBX5)
A11V (p.Ala11Val) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs1382901395
- NCI-TCGA Cosmic COSV5985
- cosmic curated COSV59859
- TOPMed rs1382901395
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.24
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available