P47Q (p.Pro47Gln) variant of NOS3 (Nitric oxide synthase 3)
P47Q (p.Pro47Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P47Q (p.Pro47Gln) variant details
- p.Pro47Gln
- gnomAD rs866430608
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.02
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available