S17F (p.Ser17Phe) variant of SYNGAP1 (Q96PV0)
S17F (p.Ser17Phe) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability, autosomal dominant 5; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- Ensembl rs1776745530
- Conflicting interpretations
- Intellectual disability, autosomal dominant 5; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 5; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-06)
- Structural context available