R136Q (p.Arg136Gln) variant of HNF4A (P41235)
R136Q (p.Arg136Gln) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R136Q (p.Arg136Gln) variant details
- p.Arg136Gln
- rs149611886
- ClinGen CA9870228
- cosmic curated COSV10514
- ClinVar RCV001198620
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.87
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.90
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance (in MODY1)
- UniProt: Uncertain significance (in MODY1)
- Most common in the Non-Finnish European population (allele frequency 7.8e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)