P24P (p.Pro24Pro) variant of OPTN (Optineurin)
P24P (p.Pro24Pro) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P24P (p.Pro24Pro) variant details
- p.Pro24Pro
- rs757085115
- gnomAD 10-13109194-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 5.58
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available