P55R (p.Pro55Arg) variant of NOS3 (Nitric oxide synthase 3)
P55R (p.Pro55Arg) in NOS3 (Nitric oxide synthase 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- gnomAD 7-150995202-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available