S31N (p.Ser31Asn) variant of PDX1 (P52945)
S31N (p.Ser31Asn) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S31N (p.Ser31Asn) variant details
- p.Ser31Asn
- rs1449072088
- ClinGen CA387643833
- ClinVar RCV003090408
- ClinVar RCV005011003
- Uncertain significance
- Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabe
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.25
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 4; Pancreatic agenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)