E28K (p.Glu28Lys) variant of SLC6A19 (Q695T7)
E28K (p.Glu28Lys) in SLC6A19 (Q695T7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs774192589
- ExAC rs774192589
- gnomAD rs774192589
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available