R36P (p.Arg36Pro) variant of GCK (Hexokinase-4)
R36P (p.Arg36Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R36P (p.Arg36Pro) variant details
- p.Arg36Pro
- rs193922261
- ClinGen CA213709
- ClinVar RCV000029836
- ClinVar RCV006461227
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.14
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)