L6M (p.Leu6Met) variant of SLC18A2 (Q05940)
L6M (p.Leu6Met) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- ExAC rs757075197
- gnomAD rs757075197
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 19.10
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available