G21E (p.Gly21Glu) variant of OPTN (Optineurin)
G21E (p.Gly21Glu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- gnomAD rs1337787932
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 0.64
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available