M58T (p.Met58Thr) variant of OPTN (Optineurin)
M58T (p.Met58Thr) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
M58T (p.Met58Thr) variant details
- p.Met58Thr
- gnomAD rs1271759733
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.62
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)