V83G (p.Val83Gly) variant of SLC6A3 (Q01959)
V83G (p.Val83Gly) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V83G (p.Val83Gly) variant details
- p.Val83Gly
- TOPMed rs1272336654
- gnomAD rs1272336654
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.96
- MetaLR 0.79
- MetaSVM 0.83
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available