K68R (p.Lys68Arg) variant of NOS1AP (O75052)
K68R (p.Lys68Arg) 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 and structural context.
K68R (p.Lys68Arg) variant details
- p.Lys68Arg
- cosmic curated COSV10527
- TOPMed rs761523382
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available