A2S (p.Ala2Ser) variant of SLC18A2 (Q05940)
A2S (p.Ala2Ser) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD rs1434932291
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 23.30
- PolyPhen-2 0.27
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available