I185V (p.Ile185Val) variant of POGZ (Q7Z3K3)
I185V (p.Ile185Val) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I185V (p.Ile185Val) variant details
- p.Ile185Val
- cosmic curated COSV99653
- ExAC rs772989205
- TOPMed rs772989205
- gnomAD rs772989205
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.48
- CADD 23.10
- PolyPhen-2 0.85
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available