Y14H (p.Tyr14His) variant of PDX1 (P52945)
Y14H (p.Tyr14His) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y14H (p.Tyr14His) variant details
- p.Tyr14His
- gnomAD 13-27920178-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.64
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available