H41R (p.His41Arg) variant of GNAS (P63092)
H41R (p.His41Arg) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H41R (p.His41Arg) variant details
- p.His41Arg
- rs1389217949
- gnomAD 20-58840150-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 25.80
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available