S49L (p.Ser49Leu) variant of SLC12A1 (Q13621)
S49L (p.Ser49Leu) in SLC12A1 (Q13621) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- gnomAD 15-48207861-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 27.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available