K65N (p.Lys65Asn) variant of NOS1AP (O75052)
K65N (p.Lys65Asn) in NOS1AP (O75052) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- rs748280771
- ClinGen CA1215399
- ClinVar RCV004488160
- ExAC rs748280771
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available