K197R (p.Lys197Arg) variant of POGZ (Q7Z3K3)
K197R (p.Lys197Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
K197R (p.Lys197Arg) variant details
- p.Lys197Arg
- ExAC rs756512901
- TOPMed rs756512901
- gnomAD rs756512901
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available