N31K (p.Asn31Lys) variant of OPTN (Optineurin)
N31K (p.Asn31Lys) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- gnomAD 10-13109211-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available