G21R (p.Gly21Arg) variant of OPTN (Optineurin)
G21R (p.Gly21Arg) in OPTN (Optineurin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- NCI-TCGA Cosmic COSV5381
- cosmic curated COSV53811
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.36
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available