M132V (p.Met132Val) variant of POGZ (Q7Z3K3)
M132V (p.Met132Val) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M132V (p.Met132Val) variant details
- p.Met132Val
- rs2102308092
- ClinGen CA341982294
- ClinVar RCV002248107
- Ensembl rs2102308092
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available