F195C (p.Phe195Cys) variant of POGZ (Q7Z3K3)
F195C (p.Phe195Cys) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F195C (p.Phe195Cys) variant details
- p.Phe195Cys
- gnomAD rs1338692189
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.31
- ESM-1b 0.48
- AlphaMissense 0.92
- CADD 28.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available