G3C (p.Gly3Cys) variant of PDX1 (P52945)
G3C (p.Gly3Cys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G3C (p.Gly3Cys) variant details
- p.Gly3Cys
- gnomAD 13-27920145-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.26
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available