N6D (p.Asn6Asp) variant of GNAS (P63092)
N6D (p.Asn6Asp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N6D (p.Asn6Asp) variant details
- p.Asn6Asp
- Ensembl rs2145914545
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.34
- CADD 20.40
- PolyPhen-2 0.31
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available