P34Q (p.Pro34Gln) variant of NOS3 (Nitric oxide synthase 3)
P34Q (p.Pro34Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- gnomAD 7-150993904-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.07
- CADD 18.60
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available