P297S (p.Pro297Ser) variant of HNF4A (P41235)
P297S (p.Pro297Ser) in HNF4A (P41235) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P297S (p.Pro297Ser) variant details
- p.Pro297Ser
- rs2515699364
- ClinGen CA409107648
- ClinVar RCV002285539
- Likely pathogenic
- Maturity-onset diabetes of the young type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- MetaLR 0.91
- MetaSVM 1.00
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)