P24T (p.Pro24Thr) variant of OPTN (Optineurin)
P24T (p.Pro24Thr) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- ExAC rs764166537
- TOPMed rs764166537
- gnomAD rs764166537
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.39
- CADD 18.40
- PolyPhen-2 0.99
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available