V100L (p.Val100Leu) variant of SLC6A3 (Q01959)
V100L (p.Val100Leu) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- TOPMed rs1733662535
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.35
- MetaLR 0.25
- MetaSVM -0.67
- CADD 22.30
- PolyPhen-2 0.29
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available