K55K (p.Lys55Lys) variant of OPTN (Optineurin)
K55K (p.Lys55Lys) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K55K (p.Lys55Lys) variant details
- p.Lys55Lys
- gnomAD 10-13109287-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available