K15Q (p.Lys15Gln) variant of PDX1 (P52945)
K15Q (p.Lys15Gln) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K15Q (p.Lys15Gln) variant details
- p.Lys15Gln
- TOPMed rs1324849296
- gnomAD rs1324849296
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.59
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available