S28A (p.Ser28Ala) variant of SLC22A5 (O76082)
S28A (p.Ser28Ala) in SLC22A5 (O76082) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- gnomAD 5-132370051-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 27.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available