C35G (p.Cys35Gly) variant of PDX1 (P52945)
C35G (p.Cys35Gly) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C35G (p.Cys35Gly) variant details
- p.Cys35Gly
- gnomAD 13-27920241-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-06)
- Structural context available
- Literature evidence available