K34R (p.Lys34Arg) variant of GNAS (P63092)
K34R (p.Lys34Arg) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- Ensembl rs1944236486
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available