S54R (p.Ser54Arg) variant of GNAS (P63092)
S54R (p.Ser54Arg) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- cosmic curated COSV10501
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.86
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available