V196I (p.Val196Ile) variant of POGZ (Q7Z3K3)
V196I (p.Val196Ile) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V196I (p.Val196Ile) variant details
- p.Val196Ile
- gnomAD rs1275418498
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.70
- PolyPhen-2 0.16
- SIFT 0.29
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available