V24I (p.Val24Ile) variant of SYNGAP1 (Q96PV0)
V24I (p.Val24Ile) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- TOPMed rs1285510555
- gnomAD rs1285510555
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.95
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available