M116L (p.Met116Leu) variant of SLC6A3 (Q01959)
M116L (p.Met116Leu) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M116L (p.Met116Leu) variant details
- p.Met116Leu
- gnomAD rs1733661373
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.26
- MetaLR 0.24
- MetaSVM -0.81
- CADD 23.30
- PolyPhen-2 0.64
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available