P17Q (p.Pro17Gln) variant of PDX1 (P52945)
P17Q (p.Pro17Gln) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- gnomAD 13-27920188-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.21
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available