K30Q (p.Lys30Gln) variant of TCF7L2 (Transcription factor 7-like 2)
K30Q (p.Lys30Gln) in TCF7L2 (Transcription factor 7-like 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
K30Q (p.Lys30Gln) variant details
- p.Lys30Gln
- ExAC rs780321853
- TOPMed rs780321853
- gnomAD rs780321853
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available