L42L (p.Leu42Leu) variant of GNA11 (P29992)
L42L (p.Leu42Leu) in GNA11 (P29992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1342252945
- gnomAD 19-3094775-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 15.00
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- Literature evidence available