H137R (p.His137Arg) variant of POGZ (Q7Z3K3)
H137R (p.His137Arg) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H137R (p.His137Arg) variant details
- p.His137Arg
- TOPMed rs1479424067
- gnomAD rs1479424067
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available