L91S (p.Leu91Ser) variant of NOS1AP (O75052)
L91S (p.Leu91Ser) in NOS1AP (O75052) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L91S (p.Leu91Ser) variant details
- p.Leu91Ser
- gnomAD 1-162287430-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available