V44M (p.Val44Met) variant of POGZ (Q7Z3K3)
V44M (p.Val44Met) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs752798900
- ClinGen CA1091711
- ClinVar RCV000754550
- ClinVar RCV000761620
- Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.38
- ESM-1b 0.06
- AlphaMissense 0.21
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Likely benign (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)