L107V (p.Leu107Val) variant of POGZ (Q7Z3K3)
L107V (p.Leu107Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- rs998675361
- ClinGen CA341982708
- ClinVar RCV000754546
- TOPMed rs998675361
- association
- Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: association (Autism spectrum disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)