S28P (p.Ser28Pro) variant of SYNGAP1 (Q96PV0)
S28P (p.Ser28Pro) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- rs1776860607
- ClinGen CA363677829
- ClinVar RCV002013316
- gnomAD rs1776860607
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.05
- MetaLR 0.00
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.38
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)