P50R (p.Pro50Arg) variant of SLC6A3 (Q01959)
P50R (p.Pro50Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- ESP rs146798197
- ExAC rs146798197
- TOPMed rs146798197
- gnomAD rs146798197
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.13
- MetaLR 0.33
- MetaSVM -0.59
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available