K27R (p.Lys27Arg) variant of SLC6A3 (Q01959)
K27R (p.Lys27Arg) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- ExAC rs777762592
- gnomAD rs777762592
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.09
- MetaLR 0.25
- MetaSVM -0.85
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available