K30E (p.Lys30Glu) variant of TBX20 (T-box transcription factor TBX20)
K30E (p.Lys30Glu) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. 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.
K30E (p.Lys30Glu) variant details
- p.Lys30Glu
- rs1324827144
- ClinGen CA367265537
- ClinVar RCV003042131
- ClinVar RCV004990976
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available