P24H (p.Pro24His) variant of OPTN (Optineurin)
P24H (p.Pro24His) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 10-13109193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.32
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available