G215V (p.Gly215Val) variant of POGZ (Q7Z3K3)
G215V (p.Gly215Val) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
G215V (p.Gly215Val) variant details
- p.Gly215Val
- ExAC rs757988561
- gnomAD rs757988561
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available