K55Q (p.Lys55Gln) variant of SLC18A2 (Q05940)
K55Q (p.Lys55Gln) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K55Q (p.Lys55Gln) variant details
- p.Lys55Gln
- ESP rs374132735
- ExAC rs374132735
- TOPMed rs374132735
- gnomAD rs374132735
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available