K4R (p.Lys4Arg) variant of NOS1AP (O75052)
K4R (p.Lys4Arg) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- gnomAD 1-162070188-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.98
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available