Q133R (p.Gln133Arg) variant of POGZ (Q7Z3K3)
Q133R (p.Gln133Arg) 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.
Q133R (p.Gln133Arg) variant details
- p.Gln133Arg
- ExAC rs776985962
- gnomAD rs776985962
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.53
- CADD 20.30
- PolyPhen-2 0.10
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available