W64C (p.Trp64Cys) variant of TBX5 (T-box transcription factor TBX5)
W64C (p.Trp64Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W64C (p.Trp64Cys) variant details
- p.Trp64Cys
- rs1555226581
- ClinGen CA386863156
- ClinVar RCV000585449
- Ensembl rs1555226581
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.10
- CADD 25.70
- PolyPhen-2 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available