M111L (p.Met111Leu) variant of SLC6A3 (Q01959)
M111L (p.Met111Leu) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M111L (p.Met111Leu) variant details
- p.Met111Leu
- ExAC rs750236613
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- MetaLR 0.13
- MetaSVM -1.05
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available