Q12K (p.Gln12Lys) variant of PDX1 (P52945)
Q12K (p.Gln12Lys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- gnomAD 13-27920172-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.27
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available