L6V (p.Leu6Val) variant of SLC18A2 (Q05940)
L6V (p.Leu6Val) in SLC18A2 (Q05940) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- NCI-TCGA TCGA novel
- ExAC rs757075197
- gnomAD rs757075197
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 18.90
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available