L58L (p.Leu58Leu) variant of SLC12A1 (Q13621)
L58L (p.Leu58Leu) 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.
L58L (p.Leu58Leu) variant details
- p.Leu58Leu
- gnomAD 15-48207893-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 7.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available