P58S (p.Pro58Ser) variant of NOS3 (Nitric oxide synthase 3)
P58S (p.Pro58Ser) 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 0.21 / 1. The record also includes population frequency data and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs752309888
- ClinGen CA4566506
- ClinVar RCV001270207
- ExAC rs752309888
- Likely pathogenic
- Premature ovarian failure
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.03
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely pathogenic (Premature ovarian failure)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available