K35Q (p.Lys35Gln) variant of SLC6A3 (Q01959)
K35Q (p.Lys35Gln) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K35Q (p.Lys35Gln) variant details
- p.Lys35Gln
- ExAC rs767819131
- gnomAD rs767819131
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- MetaLR 0.49
- MetaSVM -0.17
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available