P222H (p.Pro222His) variant of POGZ (Q7Z3K3)
P222H (p.Pro222His) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
P222H (p.Pro222His) variant details
- p.Pro222His
- rs1658111867
- ClinGen CA341977965
- ClinVar RCV001303647
- Ensembl rs1658111867
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.48
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available