N2D (p.Asn2Asp) variant of PDX1 (P52945)
N2D (p.Asn2Asp) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N2D (p.Asn2Asp) variant details
- p.Asn2Asp
- gnomAD 13-27920142-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.60
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available