T217A (p.Thr217Ala) variant of POGZ (Q7Z3K3)
T217A (p.Thr217Ala) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T217A (p.Thr217Ala) variant details
- p.Thr217Ala
- rs765232832
- ClinGen CA341978071
- ClinVar RCV003262292
- ExAC rs765232832
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.00
- PolyPhen-2 0.15
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)