N168H (p.Asn168His) variant of PDX1 (P52945)
N168H (p.Asn168His) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
N168H (p.Asn168His) variant details
- p.Asn168His
- rs1555241857
- ClinGen CA387645461
- ClinVar RCV000501202
- Ensembl rs1555241857
- Likely pathogenic
- Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.80
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 4; Pancreatic agenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)