S7N (p.Ser7Asn) variant of GNAS (P63092)
S7N (p.Ser7Asn) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- ExAC rs770736594
- gnomAD rs770736594
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.32
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)
- Structural context available