Q4R (p.Gln4Arg) variant of OPTN (Optineurin)
Q4R (p.Gln4Arg) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- gnomAD rs1441678291
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)