S29R (p.Ser29Arg) variant of PDX1 (P52945)
S29R (p.Ser29Arg) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- gnomAD 13-27920225-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.25
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available