P16S (p.Pro16Ser) variant of OPTN (Optineurin)
P16S (p.Pro16Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- gnomAD 10-13109168-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.18
- CADD 9.29
- PolyPhen-2 0.11
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available