L4R (p.Leu4Arg) variant of GNAS (P63092)
L4R (p.Leu4Arg) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- rs745570313
- gnomAD 20-58840869-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 20.50
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available