K112E (p.Lys112Glu) variant of TBX20 (T-box transcription factor TBX20)
K112E (p.Lys112Glu) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
K112E (p.Lys112Glu) variant details
- p.Lys112Glu
- ExAC rs752635061
- gnomAD rs752635061
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.74
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.38
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available