F28L (p.Phe28Leu) variant of PDX1 (P52945)
F28L (p.Phe28Leu) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset diabetes of the. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- TOPMed rs1164169925
- gnomAD rs1164169925
- Uncertain significance
- Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset diabetes of the
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.32
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available