G23V (p.Gly23Val) variant of PDX1 (P52945)
G23V (p.Gly23Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD rs1435965192
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available