I43T (p.Ile43Thr) variant of SLC22A5 (O76082)
I43T (p.Ile43Thr) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- gnomAD 5-132370100-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.15
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available