A10V (p.Ala10Val) variant of PDX1 (P52945)
A10V (p.Ala10Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 13-27920167-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 0.22
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available