P36L (p.Pro36Leu) variant of SLC2A1 (P11166)
P36L (p.Pro36Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs1570600997
- ClinGen CA339964740
- ClinVar RCV000850198
- ClinVar RCV005001108
- Conflicting interpretations
- Intellectual disability; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)