V8L (p.Val8Leu) variant of SLC6A3 (Q01959)
V8L (p.Val8Leu) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- TOPMed rs1243839869
- gnomAD rs1243839869
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- MetaLR 0.28
- MetaSVM -0.80
- CADD 14.80
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available