A34C (p.Ala34Cys) variant of PDX1 (P52945)
A34C (p.Ala34Cys) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A34C (p.Ala34Cys) variant details
- p.Ala34Cys
- gnomAD 13-27920230-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available