L16P (p.Leu16Pro) variant of NOS1AP (O75052)
L16P (p.Leu16Pro) 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.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 1-162070224-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.13
- MetaLR 0.02
- MetaSVM -1.05
- CADD 26.90
- PolyPhen-2 0.85
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available