L4L (p.Leu4Leu) variant of SLC12A3 (P55017)
L4L (p.Leu4Leu) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs752822591
- gnomAD 16-56865245-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 6.11
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available