Q6E (p.Gln6Glu) variant of PDX1 (P52945)
Q6E (p.Gln6Glu) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q6E (p.Gln6Glu) variant details
- p.Gln6Glu
- gnomAD 13-27920154-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.21
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available