M44T (p.Met44Thr) variant of OPTN (Optineurin)
M44T (p.Met44Thr) 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 and structural context.
M44T (p.Met44Thr) variant details
- p.Met44Thr
- Ensembl rs1832940309
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.62
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available