L4P (p.Leu4Pro) variant of GNAS (P63092)
L4P (p.Leu4Pro) 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.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs745570313
- gnomAD 20-58840869-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 20.70
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available