K15M (p.Lys15Met) variant of PDX1 (P52945)
K15M (p.Lys15Met) 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.
K15M (p.Lys15Met) variant details
- p.Lys15Met
- gnomAD 13-27920182-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.77
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available