K52M (p.Lys52Met) variant of SLC18A2 (Q05940)
K52M (p.Lys52Met) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
K52M (p.Lys52Met) variant details
- p.Lys52Met
- gnomAD 10-117244004-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 23.80
- PolyPhen-2 0.59
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available