E68K (p.Glu68Lys) variant of SLC22A1 (O15245)
E68K (p.Glu68Lys) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- gnomAD 6-160122137-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.64
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available