I25V (p.Ile25Val) variant of POGZ (Q7Z3K3)
I25V (p.Ile25Val) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- ExAC rs764286455
- gnomAD rs764286455
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.40
- PolyPhen-2 0.19
- SIFT 0.18
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available