L74L (p.Leu74Leu) variant of SLC12A1 (Q13621)
L74L (p.Leu74Leu) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L74L (p.Leu74Leu) variant details
- p.Leu74Leu
- rs1162084251
- gnomAD 15-48207941-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 6.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available