K48E (p.Lys48Glu) variant of SLC6A1 (P30531)
K48E (p.Lys48Glu) in SLC6A1 (P30531) 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.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD 3-11017353-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.27
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available