A15T (p.Ala15Thr) variant of SYNGAP1 (Q96PV0)
A15T (p.Ala15Thr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs1299171563
- ClinGen CA363677108
- ClinVar RCV002618403
- gnomAD rs1299171563
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.78
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)