E40K (p.Glu40Lys) variant of SLC37A4 (O43826)
E40K (p.Glu40Lys) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- gnomAD rs1200051701
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available