G43S (p.Gly43Ser) variant of SYNGAP1 (Q96PV0)
G43S (p.Gly43Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- rs1776862933
- ClinGen CA363678022
- ClinVar RCV001330299
- ClinVar RCV005630923
- Uncertain significance
- Intellectual disability, autosomal dominant 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.41
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)