N14K (p.Asn14Lys) variant of GNAS (P63092)
N14K (p.Asn14Lys) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- rs1430025682
- gnomAD 20-58840160-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 24.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available