L36R (p.Leu36Arg) variant of PDX1 (P52945)
L36R (p.Leu36Arg) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Type 2 diabetes mellitus; Maturity-onset diabetes of the young typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L36R (p.Leu36Arg) variant details
- p.Leu36Arg
- rs936861677
- ClinGen CA247262919
- ClinVar RCV002020957
- ClinVar RCV002468380
- Uncertain significance
- not provided; Type 2 diabetes mellitus; Maturity-onset diabetes of the young typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.74
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Type 2 diabetes mellitus; Maturity-onset diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)