A10T (p.Ala10Thr) variant of PDX1 (P52945)
A10T (p.Ala10Thr) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes; Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs936474667
- ClinGen CA247262880
- ClinVar RCV000517828
- ClinVar RCV001174415
- Uncertain significance
- Monogenic diabetes; Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.13
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.16
- ClinVar: Uncertain significance (Monogenic diabetes; Maturity-onset diabetes of the young; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)