M209L (p.Met209Leu) variant of POGZ (Q7Z3K3)
M209L (p.Met209Leu) 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 0.26 / 1. The record also includes published literature and structural context.
M209L (p.Met209Leu) variant details
- p.Met209Leu
- rs1557911386
- ClinGen CA341978272
- ClinVar RCV000754544
- Ensembl rs1557911386
- association
- Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.15
- MetaSVM -0.85
- PolyPhen-2 0.01
- SIFT 0.05
- 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)