P54T (p.Pro54Thr) variant of NOS3 (Nitric oxide synthase 3)
P54T (p.Pro54Thr) 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.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- ExAC rs753511043
- gnomAD rs753511043
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available