K15R (p.Lys15Arg) variant of PDX1 (P52945)
K15R (p.Lys15Arg) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- gnomAD 13-27920180-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available