K32R (p.Lys32Arg) variant of GNAS (P63092)
K32R (p.Lys32Arg) 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.
K32R (p.Lys32Arg) variant details
- p.Lys32Arg
- cosmic curated COSV10500
- Ensembl rs2145916069
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- CADD 19.70
- PolyPhen-2 0.06
- SIFT 0.06
- Population evidence available
- Structural context available