L42L (p.Leu42Leu) variant of SLC22A5 (O76082)
L42L (p.Leu42Leu) in SLC22A5 (O76082) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs2126764965
- gnomAD 5-132370098-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available