C18G (p.Cys18Gly) variant of PDX1 (P52945)
C18G (p.Cys18Gly) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C18G (p.Cys18Gly) variant details
- p.Cys18Gly
- gnomAD 13-27920190-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available