H65R (p.His65Arg) variant of SYNGAP1 (Q96PV0)
H65R (p.His65Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H65R (p.His65Arg) variant details
- p.His65Arg
- rs1776941711
- Ensembl rs1776941711
- ClinGen CA363679014
- ClinVar RCV001045243
- Uncertain significance
- Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 21.60
- PolyPhen-2 0.23
- SIFT 0.67
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)