S53I (p.Ser53Ile) variant of NOS3 (Nitric oxide synthase 3)
S53I (p.Ser53Ile) in NOS3 (Nitric oxide synthase 3) 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 0.42 / 1. The record also includes population frequency data and structural context.
S53I (p.Ser53Ile) variant details
- p.Ser53Ile
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99872
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.14
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available