S140T (p.Ser140Thr) variant of POGZ (Q7Z3K3)
S140T (p.Ser140Thr) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S140T (p.Ser140Thr) variant details
- p.Ser140Thr
- TOPMed rs1190404898
- gnomAD rs1190404898
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.87
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available