K82N (p.Lys82Asn) variant of NOS1AP (O75052)
K82N (p.Lys82Asn) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K82N (p.Lys82Asn) variant details
- p.Lys82Asn
- gnomAD 1-162287412-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.26
- MetaLR 0.08
- MetaSVM -1.04
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available