L13P (p.Leu13Pro) variant of PDX1 (P52945)
L13P (p.Leu13Pro) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 13-27920176-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available