p.Leu41 Ala50del variant of GNAS (P63092)
p.Leu41 Ala50del in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu41 Ala50del variant details
- rs1360636166
- gnomAD 20-58840222-TCGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available