I55V (p.Ile55Val) variant of POGZ (Q7Z3K3)
I55V (p.Ile55Val) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- rs768095572
- ClinGen CA1091701
- ClinVar RCV002227811
- ClinVar RCV004738562
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Intellectual disability-microcephaly-strabismus-behavioral abnor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)