S141C (p.Ser141Cys) variant of POGZ (Q7Z3K3)
S141C (p.Ser141Cys) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S141C (p.Ser141Cys) variant details
- p.Ser141Cys
- ExAC rs760323321
- gnomAD rs760323321
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.35
- ESM-1b 0.77
- AlphaMissense 0.19
- CADD 25.60
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available