P112R (p.Pro112Arg) variant of SLC6A3 (Q01959)
P112R (p.Pro112Arg) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P112R (p.Pro112Arg) variant details
- p.Pro112Arg
- TOPMed rs1393047611
- gnomAD rs1393047611
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available