p.Leu36 Tyr37del variant of PDX1 (P52945)
p.Leu36 Tyr37del in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu36 Tyr37del variant details
- gnomAD 13-27920242-GCCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available