L32L (p.Leu32Leu) variant of OPTN (Optineurin)
L32L (p.Leu32Leu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L32L (p.Leu32Leu) variant details
- p.Leu32Leu
- rs779662670
- gnomAD 10-13109216-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM 0.46
- CADD 8.47
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.0029)
- Structural context available
- Literature evidence available