K38R (p.Lys38Arg) variant of POGZ (Q7Z3K3)
K38R (p.Lys38Arg) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- gnomAD rs1342820360
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available