P25P (p.Pro25Pro) variant of OPTN (Optineurin)
P25P (p.Pro25Pro) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P25P (p.Pro25Pro) variant details
- p.Pro25Pro
- gnomAD 10-13109197-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0871
- CADD 0.91
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available