P37R (p.Pro37Arg) variant of OPTN (Optineurin)
P37R (p.Pro37Arg) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- gnomAD 10-13109228-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 26.80
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available