A74D (p.Ala74Asp) variant of OPTN (Optineurin)
A74D (p.Ala74Asp) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A74D (p.Ala74Asp) variant details
- p.Ala74Asp
- TOPMed rs1400982119
- gnomAD rs1400982119
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.48
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available