V71I (p.Val71Ile) variant of POGZ (Q7Z3K3)
V71I (p.Val71Ile) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V71I (p.Val71Ile) variant details
- p.Val71Ile
- rs866632178
- ClinGen CA29597607
- cosmic curated COSV55035
- ClinVar RCV000754549
- association
- Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: association (Autism spectrum disorder)
- EBI: association
- UniProt: Association
- Most common in the East Asian population (allele frequency 0.00019)
- 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)