Q101H (p.Gln101His) variant of POGZ (Q7Z3K3)
Q101H (p.Gln101His) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as association in the context of Autism spectrum disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
Q101H (p.Gln101His) variant details
- p.Gln101His
- rs1557916296
- ClinGen CA341982743
- ClinVar RCV000754547
- Ensembl rs1557916296
- association
- Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.00
- MetaSVM -0.65
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: association (Autism spectrum disorder)
- EBI: association
- UniProt: Association
- Structural context available
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)