K35N (p.Lys35Asn) variant of SLC6A3 (Q01959)
K35N (p.Lys35Asn) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K35N (p.Lys35Asn) variant details
- p.Lys35Asn
- TOPMed rs1210716841
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.29
- MetaLR 0.45
- MetaSVM -0.37
- CADD 21.70
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available