S29G (p.Ser29Gly) variant of PDX1 (P52945)
S29G (p.Ser29Gly) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S29G (p.Ser29Gly) variant details
- p.Ser29Gly
- ExAC rs759692004
- gnomAD rs759692004
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.24
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available