S73L (p.Ser73Leu) variant of OPTN (Optineurin)
S73L (p.Ser73Leu) in OPTN (Optineurin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S73L (p.Ser73Leu) variant details
- p.Ser73Leu
- rs752001857
- NCI-TCGA Cosmic COSV5381
- cosmic curated COSV53812
- ExAC rs752001857
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.48
- CADD 24.30
- PolyPhen-2 0.86
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available