R13W (p.Arg13Trp) variant of GNAS (P63092)
R13W (p.Arg13Trp) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- rs202131370
- gnomAD 20-58840113-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 31.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00031)
- Structural context available
- Literature evidence available