K19R (p.Lys19Arg) variant of SLC6A3 (Q01959)
K19R (p.Lys19Arg) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- ExAC rs769471436
- TOPMed rs769471436
- gnomAD rs769471436
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.10
- MetaLR 0.26
- MetaSVM -0.77
- CADD 20.60
- PolyPhen-2 0.35
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available