V8A (p.Val8Ala) variant of SLC6A3 (Q01959)
V8A (p.Val8Ala) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- TOPMed rs1733723145
- gnomAD rs1733723145
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.08
- MetaLR 0.31
- MetaSVM -0.77
- CADD 12.90
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available