R13K (p.Arg13Lys) variant of GNAS (P63092)
R13K (p.Arg13Lys) 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, published literature, and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- gnomAD 20-58840117-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 27.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available