N14D (p.Asn14Asp) variant of GNAS (P63092)
N14D (p.Asn14Asp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- gnomAD rs1417787139
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.26
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available