S6T (p.Ser6Thr) variant of NOS3 (Nitric oxide synthase 3)
S6T (p.Ser6Thr) 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 0.39 / 1. The record also includes population frequency data and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- rs1312281138
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99871
- TOPMed rs1312281138
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.14
- CADD 22.40
- PolyPhen-2 0.37
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available