N59S (p.Asn59Ser) variant of PRKAA1 (Q13131)
N59S (p.Asn59Ser) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- cosmic curated COSV10609
- TOPMed rs930784916
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.47
- MetaLR 0.27
- MetaSVM -0.51
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available