D16E (p.Asp16Glu) variant of PDX1 (P52945)
D16E (p.Asp16Glu) 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 and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD rs1957771612
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.29
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available