M1I (p.Met1Ile) variant of SYNGAP1 (Q96PV0)
M1I (p.Met1Ile) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Intellectual disability, autosomal domina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1292609217
- ClinGen CA363677023
- ClinVar RCV001034116
- ClinVar RCV001572119
- Conflicting interpretations
- Inborn genetic diseases; not provided; Intellectual disability, autosomal domina
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- MetaLR 0.02
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Intellectual disability,)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)