P24A (p.Pro24Ala) variant of PDX1 (P52945)
P24A (p.Pro24Ala) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- gnomAD 13-27920208-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.30
- CADD 16.20
- PolyPhen-2 0.06
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available