S7R (p.Ser7Arg) variant of OPTN (Optineurin)
S7R (p.Ser7Arg) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- gnomAD rs1244662302
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.26
- CADD 26.40
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)