L113V (p.Leu113Val) variant of SLC6A3 (Q01959)
L113V (p.Leu113Val) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L113V (p.Leu113Val) variant details
- p.Leu113Val
- ExAC rs764937478
- gnomAD rs764937478
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.59
- MetaLR 0.49
- MetaSVM -0.02
- CADD 24.30
- PolyPhen-2 0.56
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available