H26H (p.His26His) variant of OPTN (Optineurin)
H26H (p.His26His) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H26H (p.His26His) variant details
- p.His26His
- rs1588433321
- gnomAD 10-13109200-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.082
- CADD 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available