R10P (p.Arg10Pro) variant of SYNGAP1 (Q96PV0)
R10P (p.Arg10Pro) 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; not provided. 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.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- rs866982002
- TOPMed rs866982002
- gnomAD rs866982002
- ClinGen CA137092042
- Uncertain significance
- Intellectual disability, autosomal dominant 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)