G12A (p.Gly12Ala) variant of SLC22A5 (O76082)
G12A (p.Gly12Ala) 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.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- gnomAD 5-132370004-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available