M44L (p.Met44Leu) variant of OPTN (Optineurin)
M44L (p.Met44Leu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M44L (p.Met44Leu) variant details
- p.Met44Leu
- gnomAD 10-13109252-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.54
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available