D5N (p.Asp5Asn) variant of POGZ (Q7Z3K3)
D5N (p.Asp5Asn) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs1557938084
- ClinGen CA341986206
- NCI-TCGA Cosmic COSV5504
- cosmic curated COSV55042
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- 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 1.8e-06)
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)