C50L (p.Cys50Leu) variant of SLC22A1 (O15245)
C50L (p.Cys50Leu) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C50L (p.Cys50Leu) variant details
- p.Cys50Leu
- rs1779947758
- gnomAD 6-160122082-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.30
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available