E169K (p.Glu169Lys) variant of NOS3 (Nitric oxide synthase 3)
E169K (p.Glu169Lys) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Premature ovarian failure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E169K (p.Glu169Lys) variant details
- p.Glu169Lys
- rs765854160
- ClinGen CA4566633
- ClinVar RCV001270208
- ExAC rs765854160
- Likely pathogenic
- Premature ovarian failure
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.60
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Premature ovarian failure)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available