L40R (p.Leu40Arg) variant of NOS1AP (O75052)
L40R (p.Leu40Arg) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L40R (p.Leu40Arg) variant details
- p.Leu40Arg
- 1000Genomes rs2102095449
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.48
- CADD 29.40
- Population evidence available
- Structural context available