P68L (p.Pro68Leu) variant of SLC2A2 (P11168)
P68L (p.Pro68Leu) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Monogenic diabetes; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- rs7637863
- ClinGen CA2702741
- ClinVar RCV000599891
- ClinVar RCV000664087
- Benign/Likely benign
- Monogenic diabetes; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.29
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Benign/Likely benign (Monogenic diabetes; not provided; not specified)
- EBI: Benign (in dbSNP:rs7637863)
- UniProt: Benign (in dbSNP:rs7637863)
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. (PMID 3399500)
- Cited in: Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with noninsulin… (PMID 7593414)