M167V (p.Met167Val) variant of POGZ (Q7Z3K3)
M167V (p.Met167Val) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M167V (p.Met167Val) variant details
- p.Met167Val
- rs375045125
- ClinGen CA1091631
- ClinVar RCV000754545
- ExAC rs375045125
- association
- Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.00
- PolyPhen-2 0.35
- SIFT 0.13
- ClinVar: association (Autism spectrum disorder)
- EBI: association
- UniProt: Association
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)