P2L (p.Pro2Leu) variant of NOS1AP (O75052)
P2L (p.Pro2Leu) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- gnomAD 1-162070182-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.37
- MetaLR 0.29
- MetaSVM -0.44
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available