P30S (p.Pro30Ser) variant of OPTN (Optineurin)
P30S (p.Pro30Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD 10-13109210-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available