A2A (p.Ala2Ala) variant of SLC18A2 (Q05940)
A2A (p.Ala2Ala) in SLC18A2 (Q05940) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs748260747
- gnomAD 10-117241699-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 21.30
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available