C50C (p.Cys50Cys) variant of SLC22A5 (O76082)
C50C (p.Cys50Cys) in SLC22A5 (O76082) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C50C (p.Cys50Cys) variant details
- p.Cys50Cys
- rs974348546
- gnomAD 5-132370122-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 14.90
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available