V212M (p.Val212Met) variant of POGZ (Q7Z3K3)
V212M (p.Val212Met) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V212M (p.Val212Met) variant details
- p.Val212Met
- rs1553226286
- ClinGen CA341978235
- ClinVar RCV000523607
- ClinVar RCV000678378
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.16
- ClinVar: Uncertain significance (Intellectual disability-microcephaly-strabismus-behavioral abnor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)