A34S (p.Ala34Ser) variant of PDX1 (P52945)
A34S (p.Ala34Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 13-27920238-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.47
- CADD 24.60
- PolyPhen-2 0.76
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available