S17R (p.Ser17Arg) variant of OPTN (Optineurin)
S17R (p.Ser17Arg) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 10-13109171-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.25
- CADD 8.13
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available