Q12H (p.Gln12His) variant of PDX1 (P52945)
Q12H (p.Gln12His) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- gnomAD 13-27920174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available