N6T (p.Asn6Thr) variant of GNAS (P63092)
N6T (p.Asn6Thr) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N6T (p.Asn6Thr) variant details
- p.Asn6Thr
- Ensembl rs747930447
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.38
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.34
- Population evidence available
- Structural context available