Q13P (p.Gln13Pro) variant of SLC18A2 (Q05940)
Q13P (p.Gln13Pro) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q13P (p.Gln13Pro) variant details
- p.Gln13Pro
- gnomAD 10-117241731-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 13.60
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available