Q63K (p.Gln63Lys) variant of OPTN (Optineurin)
Q63K (p.Gln63Lys) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
Q63K (p.Gln63Lys) variant details
- p.Gln63Lys
- Ensembl rs1588434284
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.41
- CADD 24.60
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)