H52H (p.His52His) variant of OPTN (Optineurin)
H52H (p.His52His) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H52H (p.His52His) variant details
- p.His52His
- rs1832940971
- gnomAD 10-13109278-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 8.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available