P20L (p.Pro20Leu) variant of SYNGAP1 (Q96PV0)
P20L (p.Pro20Leu) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Intellectual disability, autosomal dominant 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs1562867414
- ClinGen CA363677146
- ClinVar RCV001544829
- ClinVar RCV002488363
- Uncertain significance
- not provided; Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.57
- MetaLR 0.02
- MetaSVM -1.00
- PolyPhen-2 0.91
- SIFT 0.11
- MutPred 0.42
- ClinVar: Uncertain significance (not provided; Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)