A74S (p.Ala74Ser) variant of OPTN (Optineurin)
A74S (p.Ala74Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- gnomAD 10-13110327-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available