L43I (p.Leu43Ile) variant of GNAS (P63092)
L43I (p.Leu43Ile) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- rs112532266
- gnomAD 20-58840230-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 26.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available