M58V (p.Met58Val) variant of OPTN (Optineurin)
M58V (p.Met58Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
M58V (p.Met58Val) variant details
- p.Met58Val
- gnomAD rs1224036514
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.41
- CADD 21.80
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the East Asian population (allele frequency 5e-05)