G23V (p.Gly23Val) variant of OPTN (Optineurin)
G23V (p.Gly23Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 10-13109190-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.63
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available