E6D (p.Glu6Asp) variant of TBX5 (T-box transcription factor TBX5)
E6D (p.Glu6Asp) 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 0.23 / 1. The record also includes population frequency data and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available