E27K (p.Glu27Lys) variant of PDX1 (P52945)
E27K (p.Glu27Lys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD rs1384209067
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available