K25N (p.Lys25Asn) variant of GNAS (P63092)
K25N (p.Lys25Asn) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- cosmic curated COSV55687
- cosmic curated COSV55681
- TOPMed rs1326256762
- gnomAD rs1326256762
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.23
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available