L94M (p.Leu94Met) variant of NOS1AP (O75052)
L94M (p.Leu94Met) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L94M (p.Leu94Met) variant details
- p.Leu94Met
- ExAC rs771750757
- gnomAD rs771750757
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.11
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available