P37S (p.Pro37Ser) variant of OPTN (Optineurin)
P37S (p.Pro37Ser) 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 0.55 / 1. The record also includes structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs888024328
- Ensembl rs888024328
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.32
- MetaLR 0.65
- MetaSVM -0.16
- PolyPhen-2 0.99
- SIFT 0.41
- EVE 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available