L36P (p.Leu36Pro) variant of PDX1 (P52945)
L36P (p.Leu36Pro) in PDX1 (P52945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- TOPMed rs936861677
- gnomAD rs936861677
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available