R51P (p.Arg51Pro) variant of SLC6A3 (Q01959)
R51P (p.Arg51Pro) in SLC6A3 (Q01959) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R51P (p.Arg51Pro) variant details
- p.Arg51Pro
- ExAC rs774827862
- TOPMed rs774827862
- gnomAD rs774827862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -0.99
- CADD 9.02
- PolyPhen-2 0.00
- SIFT 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available