L315H (p.Leu315His) variant of GCK (Hexokinase-4)
L315H (p.Leu315His) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L315H (p.Leu315His) variant details
- p.Leu315His
- rs193922338
- ClinGen CA213866
- ClinVar RCV000029929
- ClinVar RCV001818187
- Pathogenic
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)