K90K (p.Lys90Lys) variant of NOS1AP (O75052)
K90K (p.Lys90Lys) in NOS1AP (O75052) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
K90K (p.Lys90Lys) variant details
- p.Lys90Lys
- rs1248977194
- gnomAD 1-162287436-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available