L4V (p.Leu4Val) variant of GNAS (P63092)
L4V (p.Leu4Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs2085688250
- gnomAD 20-58840868-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 19.20
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available