L36M (p.Leu36Met) variant of PDX1 (P52945)
L36M (p.Leu36Met) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L36M (p.Leu36Met) variant details
- p.Leu36Met
- gnomAD 13-27920244-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.62
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available