I43del (p.Ile43del) variant of SLC22A5 (O76082)
I43del (p.Ile43del) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I43del (p.Ile43del) variant details
- rs1213108484
- gnomAD 5-132370098-GATA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available