K30E (p.Lys30Glu) variant of TCF7L2 (Transcription factor 7-like 2)
K30E (p.Lys30Glu) in TCF7L2 (Transcription factor 7-like 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K30E (p.Lys30Glu) variant details
- p.Lys30Glu
- ExAC rs780321853
- TOPMed rs780321853
- gnomAD rs780321853
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available