Q43del (p.Gln43del) variant of OPTN (Optineurin)
Q43del (p.Gln43del) 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, published literature, and structural context.
Q43del (p.Gln43del) variant details
- gnomAD 10-13109244-TGCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 17.30
- Population evidence available
- Structural context available
- Literature evidence available