H29Y (p.His29Tyr) variant of OPTN (Optineurin)
H29Y (p.His29Tyr) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- TOPMed rs1344210124
- gnomAD rs1344210124
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.21
- CADD 19.90
- PolyPhen-2 0.91
- SIFT 0.81
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available