A30V (p.Ala30Val) variant of PDX1 (P52945)
A30V (p.Ala30Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 13-27920227-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.21
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available