T181A (p.Thr181Ala) variant of POGZ (Q7Z3K3)
T181A (p.Thr181Ala) 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.
T181A (p.Thr181Ala) variant details
- p.Thr181Ala
- gnomAD rs750938861
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available