D33G (p.Asp33Gly) variant of SLC18A2 (Q05940)
D33G (p.Asp33Gly) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- gnomAD 10-117241791-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available