R56L (p.Arg56Leu) variant of NOS1AP (O75052)
R56L (p.Arg56Leu) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- gnomAD 1-162154466-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.47
- MetaLR 0.13
- MetaSVM -0.76
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available