K26E (p.Lys26Glu) variant of SLC6A1 (P30531)
K26E (p.Lys26Glu) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- gnomAD 3-11017287-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available