M1R (p.Met1Arg) variant of GNAS (P63092)
M1R (p.Met1Arg) 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.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs760203169
- gnomAD 20-58840878-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 20.50
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available