A31V (p.Ala31Val) variant of TBX5 (T-box transcription factor TBX5)
A31V (p.Ala31Val) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs1214991478
- ClinGen CA386863519
- cosmic curated COSV10738
- ClinVar RCV002371524
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.06
- MetaLR 0.34
- MetaSVM -0.74
- PolyPhen-2 0.12
- SIFT 0.13
- MutPred 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available