D16Y (p.Asp16Tyr) variant of PDX1 (P52945)
D16Y (p.Asp16Tyr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- gnomAD 13-27920184-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.58
- CADD 29.80
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available