K71N (p.Lys71Asn) variant of NOS1AP (O75052)
K71N (p.Lys71Asn) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K71N (p.Lys71Asn) variant details
- p.Lys71Asn
- gnomAD 1-162287379-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.30
- MetaLR 0.06
- MetaSVM -1.08
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available