K15E (p.Lys15Glu) variant of PDX1 (P52945)
K15E (p.Lys15Glu) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- TOPMed rs1324849296
- gnomAD rs1324849296
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.65
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available