P54S (p.Pro54Ser) variant of NOS3 (Nitric oxide synthase 3)
P54S (p.Pro54Ser) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- cosmic curated COSV52496
- ExAC rs753511043
- gnomAD rs753511043
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available