K36Q (p.Lys36Gln) variant of SLC6A1 (P30531)
K36Q (p.Lys36Gln) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K36Q (p.Lys36Gln) variant details
- p.Lys36Gln
- gnomAD 3-11017317-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available