E6K (p.Glu6Lys) variant of TBX5 (T-box transcription factor TBX5)
E6K (p.Glu6Lys) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Aortic valve disease 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs145365553
- ClinGen CA6809742
- cosmic curated COSV59861
- NCI-TCGA Cosmic COSV5986
- Benign/Likely benign
- Cardiovascular phenotype; Aortic valve disease 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.43
- CADD 25.40
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Aortic valve disease 2; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)