M29T (p.Met29Thr) variant of SYNGAP1 (Q96PV0)
M29T (p.Met29Thr) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M29T (p.Met29Thr) variant details
- p.Met29Thr
- rs1273250249
- TOPMed rs1273250249
- ClinGen CA363677849
- ClinVar RCV001314973
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.02
- SIFT 1.00
- MutPred 0.20
- 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)