K83R (p.Lys83Arg) variant of POGZ (Q7Z3K3)
K83R (p.Lys83Arg) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K83R (p.Lys83Arg) variant details
- p.Lys83Arg
- TOPMed rs899455671
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available