E13G (p.Glu13Gly) variant of SLC22A5 (O76082)
E13G (p.Glu13Gly) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- gnomAD 5-132370010-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.48
- CADD 25.40
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available