D27N (p.Asp27Asn) variant of POGZ (Q7Z3K3)
D27N (p.Asp27Asn) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- TOPMed rs1390301993
- gnomAD rs1390301993
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 26.20
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available