M16I (p.Met16Ile) variant of SYNGAP1 (Q96PV0)
M16I (p.Met16Ile) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M16I (p.Met16Ile) variant details
- p.Met16Ile
- rs1776745451
- ClinGen CA363677119
- ClinVar RCV001957125
- gnomAD rs1776745451
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.42
- 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)