M44I (p.Met44Ile) variant of OPTN (Optineurin)
M44I (p.Met44Ile) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
M44I (p.Met44Ile) variant details
- p.Met44Ile
- Ensembl rs1835878869
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.53
- CADD 24.20
- Population evidence available
- Structural context available