C50A (p.Cys50Ala) variant of SLC22A5 (O76082)
C50A (p.Cys50Ala) in SLC22A5 (O76082) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C50A (p.Cys50Ala) variant details
- p.Cys50Ala
- rs386134227
- gnomAD 5-132370119-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available