N66K (p.Asn66Lys) variant of NOS1AP (O75052)
N66K (p.Asn66Lys) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N66K (p.Asn66Lys) variant details
- p.Asn66Lys
- ExAC rs769708253
- gnomAD rs769708253
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available