M1V (p.Met1Val) variant of POGZ (Q7Z3K3)
M1V (p.Met1Val) 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 0.47 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2102371063
- ClinGen CA341986232
- ClinVar RCV001795831
- ClinVar RCV006252791
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.01
- MetaSVM -1.05
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)