A76T (p.Ala76Thr) variant of POGZ (Q7Z3K3)
A76T (p.Ala76Thr) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- Ensembl rs886593058
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available