R51H (p.Arg51His) variant of SLC2A1 (P11166)
R51H (p.Arg51His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Hereditary cryohydrocytosis with reduced. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- rs201815571
- ClinGen CA803603
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV001266485
- Uncertain significance
- not provided; Inborn genetic diseases; Hereditary cryohydrocytosis with reduced
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.69
- AlphaMissense 0.34
- MetaLR 0.53
- MetaSVM 0.28
- CADD 25.70
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Hereditary cryohydrocytos)
- EBI: Variant of uncertain significance (in EIG12)
- UniProt: Uncertain significance (in EIG12)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (PMID 23280796)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)