K48Q (p.Lys48Gln) variant of SLC6A1 (P30531)
K48Q (p.Lys48Gln) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K48Q (p.Lys48Gln) variant details
- p.Lys48Gln
- gnomAD 3-11017353-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available