L113P (p.Leu113Pro) variant of SLC6A3 (Q01959)
L113P (p.Leu113Pro) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- ExAC rs762156262
- gnomAD rs762156262
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.87
- MetaLR 0.78
- MetaSVM 0.72
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available