S18W (p.Ser18Trp) variant of SLC18A2 (Q05940)
S18W (p.Ser18Trp) 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 0.82 / 1. The record also includes population frequency data and structural context.
S18W (p.Ser18Trp) variant details
- p.Ser18Trp
- rs556880835
- 1000Genomes rs556880835
- ExAC rs556880835
- gnomAD rs556880835
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available