S73I (p.Ser73Ile) variant of NOS1AP (O75052)
S73I (p.Ser73Ile) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S73I (p.Ser73Ile) variant details
- p.Ser73Ile
- gnomAD 1-162287384-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.21
- MetaLR 0.02
- MetaSVM -1.01
- CADD 22.50
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available