A25V (p.Ala25Val) variant of PDX1 (P52945)
A25V (p.Ala25Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 13-27920212-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.10
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available