C8G (p.Cys8Gly) variant of OPTN (Optineurin)
C8G (p.Cys8Gly) in OPTN (Optineurin) 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.
C8G (p.Cys8Gly) variant details
- p.Cys8Gly
- gnomAD rs1437418238
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.15
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)